Published in Nucleic Acids Research, the study “Rational design of hybrid DNA–RNA triplex structures as modulators of transcriptional activity in vitro” was conducted by an international team led by Alessandro Cecconello of the Department of Comparative Biomedicine and Nutrition of the University of Padua and researchers from the University of Munich.

The study is the first to present a general approach to the analysis of the regulatory mechanism of gene transcription, which is the conversion of DNA into RNA. The study shows how it is possible to determine the inhibition or increase of this conversion through the formation of triplex hybrids, ultimately resulting in the switching off or the activation of that gene. The research uses synthetic RNA strands as the control of gene expression from transcriptional units produced in vitro (units composed of a regulatory and a transcribed part) that are designed from bacterial DNA.

DNA and RNA nucleic acids are linear polymers commonly found in single-stranded or duplex (double-stranded helix) cells that store and transmit genetic information. Although these polymers can assume other geometries such as triplex (three strands) or quadruplex (four strands), little is known about their biological functions. The hybrid triplex, which is a triple-helix structure, composed of a DNA or RNA duplex and a single strand of another nucleic acid appears to be involved in regulatory mechanisms.

The hybrid triple-helix structures are the subject of intense studies, much of which concerns the long non-coding RNA (lncRNAs) which are single-stranded RNA molecules that do not encode proteins. Such molecules seem to be involved in the regulation of specific genes based on a mechanism of inhibition or stimulation of transcription involving triple-helix structures.

Published in Nucleic Acids Research, the study “Rational design of hybrid DNA–RNA triplex structures as modulators of transcriptional activity in vitro” was conducted by an international team led by Alessandro Cecconello of the Department of Comparative Biomedicine and Nutrition of the University of Padua and researchers from the University of Munich.

The study is the first to present a general approach to the analysis of the regulatory mechanism of gene transcription, which is the conversion of DNA into RNA. The study shows how it is possible to determine the inhibition or increase of this conversion through the formation of triplex hybrids, ultimately resulting in the switching off or the activation of that gene. The research uses synthetic RNA strands as the control of gene expression from transcriptional units produced in vitro (units composed of a regulatory and a transcribed part) that are designed from bacterial DNA.

DNA and RNA nucleic acids are linear polymers commonly found in single-stranded or duplex (double-stranded helix) cells that store and transmit genetic information. Although these polymers can assume other geometries such as triplex (three strands) or quadruplex (four strands), little is known about their biological functions. The hybrid triplex, which is a triple-helix structure, composed of a DNA or RNA duplex and a single strand of another nucleic acid appears to be involved in regulatory mechanisms.

The hybrid triple-helix structures are the subject of intense studies, much of which concerns the long non-coding RNA (lncRNAs) which are single-stranded RNA molecules that do not encode proteins. Such molecules seem to be involved in the regulation of specific genes based on a mechanism of inhibition or stimulation of transcription involving triple-helix structures.

Published in Nucleic Acids Research, the study “Rational design of hybrid DNA–RNA triplex structures as modulators of transcriptional activity in vitro” was conducted by an international team led by Alessandro Cecconello of the Department of Comparative Biomedicine and Nutrition of the University of Padua and researchers from the University of Munich.

The study is the first to present a general approach to the analysis of the regulatory mechanism of gene transcription, which is the conversion of DNA into RNA. The study shows how it is possible to determine the inhibition or increase of this conversion through the formation of triplex hybrids, ultimately resulting in the switching off or the activation of that gene. The research uses synthetic RNA strands as the control of gene expression from transcriptional units produced in vitro (units composed of a regulatory and a transcribed part) that are designed from bacterial DNA.

DNA and RNA nucleic acids are linear polymers commonly found in single-stranded or duplex (double-stranded helix) cells that store and transmit genetic information. Although these polymers can assume other geometries such as triplex (three strands) or quadruplex (four strands), little is known about their biological functions. The hybrid triplex, which is a triple-helix structure, composed of a DNA or RNA duplex and a single strand of another nucleic acid appears to be involved in regulatory mechanisms.

The hybrid triple-helix structures are the subject of intense studies, much of which concerns the long non-coding RNA (lncRNAs) which are single-stranded RNA molecules that do not encode proteins. Such molecules seem to be involved in the regulation of specific genes based on a mechanism of inhibition or stimulation of transcription involving triple-helix structures.

Published in Nucleic Acids Research, the study “Rational design of hybrid DNA–RNA triplex structures as modulators of transcriptional activity in vitro” was conducted by an international team led by Alessandro Cecconello of the Department of Comparative Biomedicine and Nutrition of the University of Padua and researchers from the University of Munich.

The study is the first to present a general approach to the analysis of the regulatory mechanism of gene transcription, which is the conversion of DNA into RNA. The study shows how it is possible to determine the inhibition or increase of this conversion through the formation of triplex hybrids, ultimately resulting in the switching off or the activation of that gene. The research uses synthetic RNA strands as the control of gene expression from transcriptional units produced in vitro (units composed of a regulatory and a transcribed part) that are designed from bacterial DNA.

DNA and RNA nucleic acids are linear polymers commonly found in single-stranded or duplex (double-stranded helix) cells that store and transmit genetic information. Although these polymers can assume other geometries such as triplex (three strands) or quadruplex (four strands), little is known about their biological functions. The hybrid triplex, which is a triple-helix structure, composed of a DNA or RNA duplex and a single strand of another nucleic acid appears to be involved in regulatory mechanisms.

The hybrid triple-helix structures are the subject of intense studies, much of which concerns the long non-coding RNA (lncRNAs) which are single-stranded RNA molecules that do not encode proteins. Such molecules seem to be involved in the regulation of specific genes based on a mechanism of inhibition or stimulation of transcription involving triple-helix structures.

Published in Nucleic Acids Research, the study “Rational design of hybrid DNA–RNA triplex structures as modulators of transcriptional activity in vitro” was conducted by an international team led by Alessandro Cecconello of the Department of Comparative Biomedicine and Nutrition of the University of Padua and researchers from the Univers

Published in Nucleic Acids Research, the study “Rational design of hybrid DNA–RNA triplex structures as modulators of transcriptional activity in vitro” was conducted by an international team led by Alessandro Cecconello of the Department of Comparative Biomedicine and Nutrition of the University of Padua and researchers from the University of Munich.

The study is the first to present a general approach to the analysis of the regulatory mechanism of gene transcription, which is the conversion of DNA into RNA. The study shows how it is possible to determine the inhibition or increase of this conversion through the formation of triplex hybrids, ultimately resulting in the switching off or the activation of that gene. The research uses synthetic RNA strands as the control of gene expression from transcriptional units produced in vitro (units composed of a regulatory and a transcribed part) that are designed from bacterial DNA.

DNA and RNA nucleic acids are linear polymers commonly found in single-stranded or duplex (double-stranded helix) cells that store and transmit genetic information. Although these polymers can assume other geometries such as triplex (three strands) or quadruplex (four strands), little is known about their biological functions. The hybrid triplex, which is a triple-helix structure, composed of a DNA or RNA duplex and a single strand of another nucleic acid appears to be involved in regulatory mechanisms.

The hybrid triple-helix structures are the subject of intense studies, much of which concerns the long non-coding RNA (lncRNAs) which are single-stranded RNA molecules that do not encode proteins. Such molecules seem to be involved in the regulation of specific genes based on a mechanism of inhibition or stimulation of transcription involving triple-helix structures.

Published in Nucleic Acids Research, the study “Rational design of hybrid DNA–RNA triplex structures as modulators of transcriptional activity in vitro” was conducted by an international team led by Alessandro Cecconello of the Department of Comparative Biomedicine and Nutrition of the University of Padua and researchers from the University of Munich.

The study is the first to present a general approach to the analysis of the regulatory mechanism of gene transcription, which is the conversion of DNA into RNA. The study shows how it is possible to determine the inhibition or increase of this conversion through the formation of triplex hybrids, ultimately resulting in the switching off or the activation of that gene. The research uses synthetic RNA strands as the control of gene expression from transcriptional units produced in vitro (units composed of a regulatory and a transcribed part) that are designed from bacterial DNA.

DNA and RNA nucleic acids are linear polymers commonly found in single-stranded or duplex (double-stranded helix) cells that store and transmit genetic information. Although these polymers can assume other geometries such as triplex (three strands) or quadruplex (four strands), little is known about their biological functions. The hybrid triplex, which is a triple-helix structure, composed of a DNA or RNA duplex and a single strand of another nucleic acid appears to be involved in regulatory mechanisms.

The hybrid triple-helix structures are the subject of intense studies, much of which concerns the long non-coding RNA (lncRNAs) which are single-stranded RNA molecules that do not encode proteins. Such molecules seem to be involved in the regulation of specific genes based on a mechanism of inhibition or stimulation of transcription involving triple-helix structures.

Published in Nucleic Acids Research, the study “Rational design of hybrid DNA–RNA triplex structures as modulators of transcriptional activity in vitro” was conducted by an international team led by Alessandro Cecconello of the Department of Comparative Biomedicine and Nutrition of the University of Padua and researchers from the University of Munich.

The study is the first to present a general approach to the analysis of the regulatory mechanism of gene transcription, which is the conversion of DNA into RNA. The study shows how it is possible to determine the inhibition or increase of this conversion through the formation of triplex hybrids, ultimately resulting in the switching off or the activation of that gene. The research uses synthetic RNA strands as the control of gene expression from transcriptional units produced in vitro (units composed of a regulatory and a transcribed part) that are designed from bacterial DNA.

DNA and RNA nucleic acids are linear polymers commonly found in single-stranded or duplex (double-stranded helix) cells that store and transmit genetic information. Although these polymers can assume other geometries such as triplex (three strands) or quadruplex (four strands), little is known about their biological functions. The hybrid triplex, which is a triple-helix structure, composed of a DNA or RNA duplex and a single strand of another nucleic acid appears to be involved in regulatory mechanisms.

The hybrid triple-helix structures are the subject of intense studies, much of which concerns the long non-coding RNA (lncRNAs) which are single-stranded RNA molecules that do not encode proteins. Such molecules seem to be involved in the regulation of specific genes based on a mechanism of inhibition or stimulation of transcription involving triple-helix structures.

Published in Nucleic Acids Research, the study “Rational design of hybrid DNA–RNA triplex structures as modulators of transcriptional activity in vitro” was conducted by an international team led by Alessandro Cecconello of the Department of Comparative Biomedicine and Nutrition of the University of Padua and researchers from the University of Munich.

The study is the first to present a general approach to the analysis of the regulatory mechanism of gene transcription, which is the conversion of DNA into RNA. The study shows how it is possible to determine the inhibition or increase of this conversion through the formation of triplex hybrids, ultimately resulting in the switching off or the activation of that gene. The research uses synthetic RNA strands as the control of gene expression from transcriptional units produced in vitro (units composed of a regulatory and a transcribed part) that are designed from bacterial DNA.

DNA and RNA nucleic acids are linear polymers commonly found in single-stranded or duplex (double-stranded helix) cells that store and transmit genetic information. Although these polymers can assume other geometries such as triplex (three strands) or quadruplex (four strands), little is known about their biological functions. The hybrid triplex, which is a triple-helix structure, composed of a DNA or RNA duplex and a single strand of another nucleic acid appears to be involved in regulatory mechanisms.

The hybrid triple-helix structures are the subject of intense studies, much of which concerns the long non-coding RNA (lncRNAs) which are single-stranded RNA molecules that do not encode proteins. Such molecules seem to be involved in the regulation of specific genes based on a mechanism of inhibition or stimulation of transcription involving triple-helix structures.

Published in Nucleic Acids Research, the study “Rational design of hybrid DNA–RNA triplex structures as modulators of transcriptional activity in vitro” was conducted by an international team led by Alessandro Cecconello of the Department of Comparative Biomedicine and Nutrition of the University of Padua and researchers from the University of Munich.

The study is the first to present a general approach to the analysis of the regulatory mechanism of gene transcription, which is the conversion of DNA into RNA. The study shows how it is possible to determine the inhibition or increase of this conversion through the formation of triplex hybrids, ultimately resulting in the switching off or the activation of that gene. The research uses synthetic RNA strands as the control of gene expression from transcriptional units produced in vitro (units composed of a regulatory and a transcribed part) that are designed from bacterial DNA.

DNA and RNA nucleic acids are linear polymers commonly found in single-stranded or duplex (double-stranded helix) cells that store and transmit genetic information. Although these polymers can assume other geometries such as triplex (three strands) or quadruplex (four strands), little is known about their biological functions. The hybrid triplex, which is a triple-helix structure, composed of a DNA or RNA duplex and a single strand of another nucleic acid appears to be involved in regulatory mechanisms.

The hybrid triple-helix structures are the subject of intense studies, much of which concerns the long non-coding RNA (lncRNAs) which are single-stranded RNA molecules that do not encode proteins. Such molecules seem to be involved in the regulation of specific genes based on a mechanism of inhibition or stimulation of transcription involving triple-helix structures.

Published in Nucleic Acids Research, the study “Rational design of hybrid DNA–RNA triplex structures as modulators of transcriptional activity in vitro” was conducted by an international team led by Alessandro Cecconello of the Department of Comparative Biomedicine and Nutrition of the University of Padua and researchers from the University of Munich.

The study is the first to present a general approach to the analysis of the regulatory mechanism of gene transcription, which is the conversion of DNA into RNA. The study shows how it is possible to determine the inhibition or increase of this conversion through the formation of triplex hybrids, ultimately resulting in the switching off or the activation of that gene. The research uses synthetic RNA strands as the control of gene expression from transcriptional units produced in vitro (units composed of a regulatory and a transcribed part) that are designed from bacterial DNA.

DNA and RNA nucleic acids are linear polymers commonly found in single-stranded or duplex (double-stranded helix) cells that store and transmit genetic information. Although these polymers can assume other geometries such as triplex (three strands) or quadruplex (four strands), little is known about their biological functions. The hybrid triplex, which is a triple-helix structure, composed of a DNA or RNA duplex and a single strand of another nucleic acid appears to be involved in regulatory mechanisms.

The hybrid triple-helix structures are the subject of intense studies, much of which concerns the long non-coding RNA (lncRNAs) which are single-stranded RNA molecules that do not encode proteins. Such molecules seem to be involved in the regulation of specific genes based on a mechanism of inhibition or stimulation of transcription involving triple-helix structures.

New research reveals that neurodegenerative diseases affect one in six people. Described as a large family of nervous system disorders, most forms of neurodegenerative diseases occur in adults with a more or less slow but progressively poor outlook.

Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's and motor neuron diseases manifest differently, ranging from cognitive impairment, psychiatric disorders, and other impairments characterized by the functional deterioration and ultimate loss of brain and spinal cord neurons.

Apart from clinical differences, neurodegenerative diseases share pathologies characterized by the accumulation of toxic proteins inside and outside neurons that manifest themselves after the age of 40 or 50. Moreover, neuronal cell death is associated with inflammation or activation of degeneration processes that lead to its self-destruction.

In most cases, pathologies are sporadic and not associated with mutations in specific genes but in some cases, they are associated with mutations in different genes. Only by studying genetic formation can we investigate the pathological processes in neurons.

The study published in Science Advances and coordinated by Maria Pennuto - University of Padua and VIMM - and conducted by researchers Diana Piol and Laura Tosatto, focuses on the study of Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), caused by the expansion of a polyglutamine tract in the gene encoding the androgen receptor.

The study reveals, "The antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain-of-function. The mutation of the androgen receptor that causes the loss of those neurons is also investigated which allows us to carry out all voluntary movements, from the use of the facial muscles to swallowing to moving the legs and arms.”

Patients gradually move from using supports for walking to using wheelchairs due to fatigue and the inability to move. By studying how the androgen receptor works under normal conditions and in disease, researchers demonstrated that the mutated protein is modified by cellular factors that add or remove chemical groups. These modifications occur on the mutated receptor more strongly than on the normal receptor. The research team identified the factors responsible for these chemical changes and those that remove them. When factors are pharmacologically or genetically reduced there is an improvement in the functionality of the receptor, thus demonstrating the relevance of these discoveries in the context of Kennedy's disease. The research conducted between UniPd and VIMM included the collaboration of other laboratories in Italy and abroad.

The aim of the study was to identify new molecular targets and to increase our understanding of the field of neurodegenerative diseases.

Research project coordinator Maria Pennuto explains, “This study allows us to clarify that the mutated receptor undergoes the same changes as the normal receptor, but that the extent of these modifications is what changes, and are stronger in the case of the mutated receptor. This translates into non-optimal functioning of the receptor that fails to perform the functions it normally performs in neurons and muscle cells. Identifying the factors responsible for these changes will help achieve a better understanding of the pathological processes that occur in the patient and help us identify new therapeutic targets".

Pennuto's research project on Kennedy's disease began in 2013, when she received a grant of over 500,000 euros from the Autonomous Province of Trento, as part of the Telethon-Dulbecco Institute (DTI) careers programme, which allowed her to create an independent research group for the study of this pathology.

New research reveals that neurodegenerative diseases affect one in six people. Described as a large family of nervous system disorders, most forms of neurodegenerative diseases occur in adults with a more or less slow but progressively poor outlook.

Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's and motor neuron diseases manifest differently, ranging from cognitive impairment, psychiatric disorders, and other impairments characterized by the functional deterioration and ultimate loss of brain and spinal cord neurons.

Apart from clinical differences, neurodegenerative diseases share pathologies characterized by the accumulation of toxic proteins inside and outside neurons that manifest themselves after the age of 40 or 50. Moreover, neuronal cell death is associated with inflammation or activation of degeneration processes that lead to its self-destruction.

In most cases, pathologies are sporadic and not associated with mutations in specific genes but in some cases, they are associated with mutations in different genes. Only by studying genetic formation can we investigate the pathological processes in neurons.

The study published in Science Advances and coordinated by Maria Pennuto - University of Padua and VIMM - and conducted by researchers Diana Piol and Laura Tosatto, focuses on the study of Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), caused by the expansion of a polyglutamine tract in the gene encoding the androgen receptor.

The study reveals, "The antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain-of-function. The mutation of the androgen receptor that causes the loss of those neurons is also investigated which allows us to carry out all voluntary movements, from the use of the facial muscles to swallowing to moving the legs and arms.”

Patients gradually move from using supports for walking to using wheelchairs due to fatigue and the inability to move. By studying how the androgen receptor works under normal conditions and in disease, researchers demonstrated that the mutated protein is modified by cellular factors that add or remove chemical groups. These modifications occur on the mutated receptor more strongly than on the normal receptor. The research team identified the factors responsible for these chemical changes and those that remove them. When factors are pharmacologically or genetically reduced there is an improvement in the functionality of the receptor, thus demonstrating the relevance of these discoveries in the context of Kennedy's disease. The research conducted between UniPd and VIMM included the collaboration of other laboratories in Italy and abroad.

The aim of the study was to identify new molecular targets and to increase our understanding of the field of neurodegenerative diseases.

Research project coordinator Maria Pennuto explains, “This study allows us to clarify that the mutated receptor undergoes the same changes as the normal receptor, but that the extent of these modifications is what changes, and are stronger in the case of the mutated receptor. This translates into non-optimal functioning of the receptor that fails to perform the functions it normally performs in neurons and muscle cells. Identifying the factors responsible for these changes will help achieve a better understanding of the pathological processes that occur in the patient and help us identify new therapeutic targets".

Pennuto's research project on Kennedy's disease began in 2013, when she received a grant of over 500,000 euros from the Autonomous Province of Trento, as part of the Telethon-Dulbecco Institute (DTI) careers programme, which allowed her to create an independent research group for the study of this pathology.

New research reveals that neurodegenerative diseases affect one in six people. Described as a large family of nervous system disorders, most forms of neurodegenerative diseases occur in adults with a more or less slow but progressively poor outlook.

Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's and motor neuron diseases manifest differently, ranging from cognitive impairment, psychiatric disorders, and other impairments characterized by the functional deterioration and ultimate loss of brain and spinal cord neurons.

Apart from clinical differences, neurodegenerative diseases share pathologies characterized by the accumulation of toxic proteins inside and outside neurons that manifest themselves after the age of 40 or 50. Moreover, neuronal cell death is associated with inflammation or activation of degeneration processes that lead to its self-destruction.

In most cases, pathologies are sporadic and not associated with mutations in specific genes but in some cases, they are associated with mutations in different genes. Only by studying genetic formation can we investigate the pathological processes in neurons.

The study published in Science Advances and coordinated by Maria Pennuto - University of Padua and VIMM - and conducted by researchers Diana Piol and Laura Tosatto, focuses on the study of Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), caused by the expansion of a polyglutamine tract in the gene encoding the androgen receptor.

The study reveals, "The antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain-of-function. The mutation of the androgen receptor that causes the loss of those neurons is also investigated which allows us to carry out all voluntary movements, from the use of the facial muscles to swallowing to moving the legs and arms.”

Patients gradually move from using supports for walking to using wheelchairs due to fatigue and the inability to move. By studying how the androgen receptor works under normal conditions and in disease, researchers demonstrated that the mutated protein is modified by cellular factors that add or remove chemical groups. These modifications occur on the mutated receptor more strongly than on the normal receptor. The research team identified the factors responsible for these chemical changes and those that remove them. When factors are pharmacologically or genetically reduced there is an improvement in the functionality of the receptor, thus demonstrating the relevance of these discoveries in the context of Kennedy's disease. The research conducted between UniPd and VIMM included the collaboration of other laboratories in Italy and abroad.

The aim of the study was to identify new molecular targets and to increase our understanding of the field of neurodegenerative diseases.

Research project coordinator Maria Pennuto explains, “This study allows us to clarify that the mutated receptor undergoes the same changes as the normal receptor, but that the extent of these modifications is what changes, and are stronger in the case of the mutated receptor. This translates into non-optimal functioning of the receptor that fails to perform the functions it normally performs in neurons and muscle cells. Identifying the factors responsible for these changes will help achieve a better understanding of the pathological processes that occur in the patient and help us identify new therapeutic targets".

Pennuto's research project on Kennedy's disease began in 2013, when she received a grant of over 500,000 euros from the Autonomous Province of Trento, as part of the Telethon-Dulbecco Institute (DTI) careers programme, which allowed her to create an independent research group for the study of this pathology.

New research reveals that neurodegenerative diseases affect one in six people. Described as a large family of nervous system disorders, most forms of neurodegenerative diseases occur in adults with a more or less slow but progressively poor outlook.

Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's and motor neuron diseases manifest differently, ranging from cognitive impairment, psychiatric disorders, and other impairments characterized by the functional deterioration and ultimate loss of brain and spinal cord neurons.

Apart from clinical differences, neurodegenerative diseases share pathologies characterized by the accumulation of toxic proteins inside and outside neurons that manifest themselves after the age of 40 or 50. Moreover, neuronal cell death is associated with inflammation or activation of degeneration processes that lead to its self-destruction.

In most cases, pathologies are sporadic and not associated with mutations in specific genes but in some cases, they are associated with mutations in different genes. Only by studying genetic formation can we investigate the pathological processes in neurons.

The study published in Science Advances and coordinated by Maria Pennuto - University of Padua and VIMM - and conducted by researchers Diana Piol and Laura Tosatto, focuses on the study of Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), caused by the expansion of a polyglutamine tract in the gene encoding the androgen receptor.

The study reveals, "The antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain-of-function. The mutation of the androgen receptor that causes the loss of those neurons is also investigated which allows us to carry out all voluntary movements, from the use of the facial muscles to swallowing to moving the legs and arms.”

Patients gradually move from using supports for walking to using wheelchairs due to fatigue and the inability to move. By studying how the androgen receptor works under normal conditions and in disease, researchers demonstrated that the mutated protein is modified by cellular factors that add or remove chemical groups. These modifications occur on the mutated receptor more strongly than on the normal receptor. The research team identified the factors responsible for these chemical changes and those that remove them. When factors are pharmacologically or genetically reduced there is an improvement in the functionality of the receptor, thus demonstrating the relevance of these discoveries in the context of Kennedy's disease. The research conducted between UniPd and VIMM included the collaboration of other laboratories in Italy and abroad.

The aim of the study was to identify new molecular targets and to increase our understanding of the field of neurodegenerative diseases.

Research project coordinator Maria Pennuto explains, “This study allows us to clarify that the mutated receptor undergoes the same changes as the normal receptor, but that the extent of these modifications is what changes, and are stronger in the case of the mutated receptor. This translates into non-optimal functioning of the receptor that fails to perform the functions it normally performs in neurons and muscle cells. Identifying the factors responsible for these changes will help achieve a better understanding of the pathological processes that occur in the patient and help us identify new therapeutic targets".

Pennuto's research project on Kennedy's disease began in 2013, when she received a grant of over 500,000 euros from the Autonomous Province of Trento, as part of the Telethon-Dulbecco Institute (DTI) careers programme, which allowed her to create an independent research group for the study of this pathology.

New research reveals that neurodegenerative diseases affect one in six people. Described as a large family of nervous system disorders, most forms of neurodegenerative diseases occur in adults with a more or less slow but progressively poor outlook.

Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's and motor neuron diseases manifest differently, ranging from cognitive impairment, psychiatric disorders, and other impairments characterized by the functional deterioration and ultimate loss of brain and spinal cord neurons.

New research reveals that neurodegenerative diseases affect one in six people. Described as a large family of nervous system disorders, most forms of neurodegenerative diseases occur in adults with a more or less slow but progressively poor outlook.

Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's and motor neuron diseases manifest differently, ranging from cognitive impairment, psychiatric disorders, and other impairments characterized by the functional deterioration and ultimate loss of brain and spinal cord neurons.

Apart from clinical differences, neurodegenerative diseases share pathologies characterized by the accumulation of toxic proteins inside and outside neurons that manifest themselves after the age of 40 or 50. Moreover, neuronal cell death is associated with inflammation or activation of degeneration processes that lead to its self-destruction.

In most cases, pathologies are sporadic and not associated with mutations in specific genes but in some cases, they are associated with mutations in different genes. Only by studying genetic formation can we investigate the pathological processes in neurons.

The study published in Science Advances and coordinated by Maria Pennuto - University of Padua and VIMM - and conducted by researchers Diana Piol and Laura Tosatto, focuses on the study of Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), caused by the expansion of a polyglutamine tract in the gene encoding the androgen receptor.

The study reveals, "The antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain-of-function. The mutation of the androgen receptor that causes the loss of those neurons is also investigated which allows us to carry out all voluntary movements, from the use of the facial muscles to swallowing to moving the legs and arms.”

Patients gradually move from using supports for walking to using wheelchairs due to fatigue and the inability to move. By studying how the androgen receptor works under normal conditions and in disease, researchers demonstrated that the mutated protein is modified by cellular factors that add or remove chemical groups. These modifications occur on the mutated receptor more strongly than on the normal receptor. The research team identified the factors responsible for these chemical changes and those that remove them. When factors are pharmacologically or genetically reduced there is an improvement in the functionality of the receptor, thus demonstrating the relevance of these discoveries in the context of Kennedy's disease. The research conducted between UniPd and VIMM included the collaboration of other laboratories in Italy and abroad.

The aim of the study was to identify new molecular targets and to increase our understanding of the field of neurodegenerative diseases.

Research project coordinator Maria Pennuto explains, “This study allows us to clarify that the mutated receptor undergoes the same changes as the normal receptor, but that the extent of these modifications is what changes, and are stronger in the case of the mutated receptor. This translates into non-optimal functioning of the receptor that fails to perform the functions it normally performs in neurons and muscle cells. Identifying the factors responsible for these changes will help achieve a better understanding of the pathological processes that occur in the patient and help us identify new therapeutic targets".

Pennuto's research project on Kennedy's disease began in 2013, when she received a grant of over 500,000 euros from the Autonomous Province of Trento, as part of the Telethon-Dulbecco Institute (DTI) careers programme, which allowed her to create an independent research group for the study of this pathology.

New research reveals that neurodegenerative diseases affect one in six people. Described as a large family of nervous system disorders, most forms of neurodegenerative diseases occur in adults with a more or less slow but progressively poor outlook.

Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's and motor neuron diseases manifest differently, ranging from cognitive impairment, psychiatric disorders, and other impairments characterized by the functional deterioration and ultimate loss of brain and spinal cord neurons.

Apart from clinical differences, neurodegenerative diseases share pathologies characterized by the accumulation of toxic proteins inside and outside neurons that manifest themselves after the age of 40 or 50. Moreover, neuronal cell death is associated with inflammation or activation of degeneration processes that lead to its self-destruction.

In most cases, pathologies are sporadic and not associated with mutations in specific genes but in some cases, they are associated with mutations in different genes. Only by studying genetic formation can we investigate the pathological processes in neurons.

The study published in Science Advances and coordinated by Maria Pennuto - University of Padua and VIMM - and conducted by researchers Diana Piol and Laura Tosatto, focuses on the study of Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), caused by the expansion of a polyglutamine tract in the gene encoding the androgen receptor.

The study reveals, "The antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain-of-function. The mutation of the androgen receptor that causes the loss of those neurons is also investigated which allows us to carry out all voluntary movements, from the use of the facial muscles to swallowing to moving the legs and arms.”

Patients gradually move from using supports for walking to using wheelchairs due to fatigue and the inability to move. By studying how the androgen receptor works under normal conditions and in disease, researchers demonstrated that the mutated protein is modified by cellular factors that add or remove chemical groups. These modifications occur on the mutated receptor more strongly than on the normal receptor. The research team identified the factors responsible for these chemical changes and those that remove them. When factors are pharmacologically or genetically reduced there is an improvement in the functionality of the receptor, thus demonstrating the relevance of these discoveries in the context of Kennedy's disease. The research conducted between UniPd and VIMM included the collaboration of other laboratories in Italy and abroad.

The aim of the study was to identify new molecular targets and to increase our understanding of the field of neurodegenerative diseases.

Research project coordinator Maria Pennuto explains, “This study allows us to clarify that the mutated receptor undergoes the same changes as the normal receptor, but that the extent of these modifications is what changes, and are stronger in the case of the mutated receptor. This translates into non-optimal functioning of the receptor that fails to perform the functions it normally performs in neurons and muscle cells. Identifying the factors responsible for these changes will help achieve a better understanding of the pathological processes that occur in the patient and help us identify new therapeutic targets".

Pennuto's research project on Kennedy's disease began in 2013, when she received a grant of over 500,000 euros from the Autonomous Province of Trento, as part of the Telethon-Dulbecco Institute (DTI) careers programme, which allowed her to create an independent research group for the study of this pathology.

New research reveals that neurodegenerative diseases affect one in six people. Described as a large family of nervous system disorders, most forms of neurodegenerative diseases occur in adults with a more or less slow but progressively poor outlook.

Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's and motor neuron diseases manifest differently, ranging from cognitive impairment, psychiatric disorders, and other impairments characterized by the functional deterioration and ultimate loss of brain and spinal cord neurons.

Apart from clinical differences, neurodegenerative diseases share pathologies characterized by the accumulation of toxic proteins inside and outside neurons that manifest themselves after the age of 40 or 50. Moreover, neuronal cell death is associated with inflammation or activation of degeneration processes that lead to its self-destruction.

In most cases, pathologies are sporadic and not associated with mutations in specific genes but in some cases, they are associated with mutations in different genes. Only by studying genetic formation can we investigate the pathological processes in neurons.

The study published in Science Advances and coordinated by Maria Pennuto - University of Padua and VIMM - and conducted by researchers Diana Piol and Laura Tosatto, focuses on the study of Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), caused by the expansion of a polyglutamine tract in the gene encoding the androgen receptor.

The study reveals, "The antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain-of-function. The mutation of the androgen receptor that causes the loss of those neurons is also investigated which allows us to carry out all voluntary movements, from the use of the facial muscles to swallowing to moving the legs and arms.”

Patients gradually move from using supports for walking to using wheelchairs due to fatigue and the inability to move. By studying how the androgen receptor works under normal conditions and in disease, researchers demonstrated that the mutated protein is modified by cellular factors that add or remove chemical groups. These modifications occur on the mutated receptor more strongly than on the normal receptor. The research team identified the factors responsible for these chemical changes and those that remove them. When factors are pharmacologically or genetically reduced there is an improvement in the functionality of the receptor, thus demonstrating the relevance of these discoveries in the context of Kennedy's disease. The research conducted between UniPd and VIMM included the collaboration of other laboratories in Italy and abroad.

The aim of the study was to identify new molecular targets and to increase our understanding of the field of neurodegenerative diseases.

Research project coordinator Maria Pennuto explains, “This study allows us to clarify that the mutated receptor undergoes the same changes as the normal receptor, but that the extent of these modifications is what changes, and are stronger in the case of the mutated receptor. This translates into non-optimal functioning of the receptor that fails to perform the functions it normally performs in neurons and muscle cells. Identifying the factors responsible for these changes will help achieve a better understanding of the pathological processes that occur in the patient and help us identify new therapeutic targets".

Pennuto's research project on Kennedy's disease began in 2013, when she received a grant of over 500,000 euros from the Autonomous Province of Trento, as part of the Telethon-Dulbecco Institute (DTI) careers programme, which allowed her to create an independent research group for the study of this pathology.

New research reveals that neurodegenerative diseases affect one in six people. Described as a large family of nervous system disorders, most forms of neurodegenerative diseases occur in adults with a more or less slow but progressively poor outlook.

Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's and motor neuron diseases manifest differently, ranging from cognitive impairment, psychiatric disorders, and other impairments characterized by the functional deterioration and ultimate loss of brain and spinal cord neurons.

Apart from clinical differences, neurodegenerative diseases share pathologies characterized by the accumulation of toxic proteins inside and outside neurons that manifest themselves after the age of 40 or 50. Moreover, neuronal cell death is associated with inflammation or activation of degeneration processes that lead to its self-destruction.

In most cases, pathologies are sporadic and not associated with mutations in specific genes but in some cases, they are associated with mutations in different genes. Only by studying genetic formation can we investigate the pathological processes in neurons.

The study published in Science Advances and coordinated by Maria Pennuto - University of Padua and VIMM - and conducted by researchers Diana Piol and Laura Tosatto, focuses on the study of Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), caused by the expansion of a polyglutamine tract in the gene encoding the androgen receptor.

The study reveals, "The antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain-of-function. The mutation of the androgen receptor that causes the loss of those neurons is also investigated which allows us to carry out all voluntary movements, from the use of the facial muscles to swallowing to moving the legs and arms.”

Patients gradually move from using supports for walking to using wheelchairs due to fatigue and the inability to move. By studying how the androgen receptor works under normal conditions and in disease, researchers demonstrated that the mutated protein is modified by cellular factors that add or remove chemical groups. These modifications occur on the mutated receptor more strongly than on the normal receptor. The research team identified the factors responsible for these chemical changes and those that remove them. When factors are pharmacologically or genetically reduced there is an improvement in the functionality of the receptor, thus demonstrating the relevance of these discoveries in the context of Kennedy's disease. The research conducted between UniPd and VIMM included the collaboration of other laboratories in Italy and abroad.

The aim of the study was to identify new molecular targets and to increase our understanding of the field of neurodegenerative diseases.

Research project coordinator Maria Pennuto explains, “This study allows us to clarify that the mutated receptor undergoes the same changes as the normal receptor, but that the extent of these modifications is what changes, and are stronger in the case of the mutated receptor. This translates into non-optimal functioning of the receptor that fails to perform the functions it normally performs in neurons and muscle cells. Identifying the factors responsible for these changes will help achieve a better understanding of the pathological processes that occur in the patient and help us identify new therapeutic targets".

Pennuto's research project on Kennedy's disease began in 2013, when she received a grant of over 500,000 euros from the Autonomous Province of Trento, as part of the Telethon-Dulbecco Institute (DTI) careers programme, which allowed her to create an independent research group for the study of this pathology.

New research reveals that neurodegenerative diseases affect one in six people. Described as a large family of nervous system disorders, most forms of neurodegenerative diseases occur in adults with a more or less slow but progressively poor outlook.

Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's and motor neuron diseases manifest differently, ranging from cognitive impairment, psychiatric disorders, and other impairments characterized by the functional deterioration and ultimate loss of brain and spinal cord neurons.

Apart from clinical differences, neurodegenerative diseases share pathologies characterized by the accumulation of toxic proteins inside and outside neurons that manifest themselves after the age of 40 or 50. Moreover, neuronal cell death is associated with inflammation or activation of degeneration processes that lead to its self-destruction.

In most cases, pathologies are sporadic and not associated with mutations in specific genes but in some cases, they are associated with mutations in different genes. Only by studying genetic formation can we investigate the pathological processes in neurons.

The study published in Science Advances and coordinated by Maria Pennuto - University of Padua and VIMM - and conducted by researchers Diana Piol and Laura Tosatto, focuses on the study of Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), caused by the expansion of a polyglutamine tract in the gene encoding the androgen receptor.

The study reveals, "The antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain-of-function. The mutation of the androgen receptor that causes the loss of those neurons is also investigated which allows us to carry out all voluntary movements, from the use of the facial muscles to swallowing to moving the legs and arms.”

Patients gradually move from using supports for walking to using wheelchairs due to fatigue and the inability to move. By studying how the androgen receptor works under normal conditions and in disease, researchers demonstrated that the mutated protein is modified by cellular factors that add or remove chemical groups. These modifications occur on the mutated receptor more strongly than on the normal receptor. The research team identified the factors responsible for these chemical changes and those that remove them. When factors are pharmacologically or genetically reduced there is an improvement in the functionality of the receptor, thus demonstrating the relevance of these discoveries in the context of Kennedy's disease. The research conducted between UniPd and VIMM included the collaboration of other laboratories in Italy and abroad.

The aim of the study was to identify new molecular targets and to increase our understanding of the field of neurodegenerative diseases.

Research project coordinator Maria Pennuto explains, “This study allows us to clarify that the mutated receptor undergoes the same changes as the normal receptor, but that the extent of these modifications is what changes, and are stronger in the case of the mutated receptor. This translates into non-optimal functioning of the receptor that fails to perform the functions it normally performs in neurons and muscle cells. Identifying the factors responsible for these changes will help achieve a better understanding of the pathological processes that occur in the patient and help us identify new therapeutic targets".

Pennuto's research project on Kennedy's disease began in 2013, when she received a grant of over 500,000 euros from the Autonomous Province of Trento, as part of the Telethon-Dulbecco Institute (DTI) careers programme, which allowed her to create an independent research group for the study of this pathology.

New research reveals that neurodegenerative diseases affect one in six people. Described as a large family of nervous system disorders, most forms of neurodegenerative diseases occur in adults with a more or less slow but progressively poor outlook.

Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's and motor neuron diseases manifest differently, ranging from cognitive impairment, psychiatric disorders, and other impairments characterized by the functional deterioration and ultimate loss of brain and spinal cord neurons.

Apart from clinical differences, neurodegenerative diseases share pathologies characterized by the accumulation of toxic proteins inside and outside neurons that manifest themselves after the age of 40 or 50. Moreover, neuronal cell death is associated with inflammation or activation of degeneration processes that lead to its self-destruction.

In most cases, pathologies are sporadic and not associated with mutations in specific genes but in some cases, they are associated with mutations in different genes. Only by studying genetic formation can we investigate the pathological processes in neurons.

The study published in Science Advances and coordinated by Maria Pennuto - University of Padua and VIMM - and conducted by researchers Diana Piol and Laura Tosatto, focuses on the study of Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), caused by the expansion of a polyglutamine tract in the gene encoding the androgen receptor.

The study reveals, "The antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain-of-function. The mutation of the androgen receptor that causes the loss of those neurons is also investigated which allows us to carry out all voluntary movements, from the use of the facial muscles to swallowing to moving the legs and arms.”

Patients gradually move from using supports for walking to using wheelchairs due to fatigue and the inability to move. By studying how the androgen receptor works under normal conditions and in disease, researchers demonstrated that the mutated protein is modified by cellular factors that add or remove chemical groups. These modifications occur on the mutated receptor more strongly than on the normal receptor. The research team identified the factors responsible for these chemical changes and those that remove them. When factors are pharmacologically or genetically reduced there is an improvement in the functionality of the receptor, thus demonstrating the relevance of these discoveries in the context of Kennedy's disease. The research conducted between UniPd and VIMM included the collaboration of other laboratories in Italy and abroad.

The aim of the study was to identify new molecular targets and to increase our understanding of the field of neurodegenerative diseases.

Research project coordinator Maria Pennuto explains, “This study allows us to clarify that the mutated receptor undergoes the same changes as the normal receptor, but that the extent of these modifications is what changes, and are stronger in the case of the mutated receptor. This translates into non-optimal functioning of the receptor that fails to perform the functions it normally performs in neurons and muscle cells. Identifying the factors responsible for these changes will help achieve a better understanding of the pathological processes that occur in the patient and help us identify new therapeutic targets".

Pennuto's research project on Kennedy's disease began in 2013, when she received a grant of over 500,000 euros from the Autonomous Province of Trento, as part of the Telethon-Dulbecco Institute (DTI) careers programme, which allowed her to create an independent research group for the study of this pathology.