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MARIO BORTOLOZZI

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Position

Professore Associato

Structure

Dipartimento di Fisica e Astronomia "Galileo Galilei" - DFA

Address

VIA F. MARZOLO, 8 - PADOVA

Telephone

0497923237

E-mail

mario.bortolozzi@unipd.it

Professor Bortolozzi leads a team of researchers at the Veneto Institute of Molecular Medicine (VIMM), a center of excellence in Padua dedicated to the study of various diseases under the scientific leadership of Professor Nicola Elvassore and Professor Andrea Ballabio.

Education
Originally trained as a physicist (he is associate professor at the Department of Physics and Astronomy "G. Galilei" at the University of Padua), he specialized in neurobiology during his Ph.D., which he obtained in Padua in 2008. He then continued his research in the field of genetic diseases, particularly focusing on defects in Ca²⁺ homeostasis and the function of connexin-formed channels.

Research Activities
His research focuses on understanding the molecular mechanisms underlying pathologies of the central and peripheral nervous systems. In particular, Professor Bortolozzi’s lab is currently engaged in three main projects:
- Investigating connexin 32 (Cx32) mutations, responsible for the X-linked form of Charcot-Marie-Tooth disease (CMT1X), a degenerative motor and sensory neuropathy.
- Studying pathological variants of the parkin protein, which cause autosomal recessive juvenile parkinsonism (ARJP).
- Exploring the effects of perfluoroalkyl substances (PFAS) on the physiology and pathology of brain neurons.

Both CMT1X and ARJP are associated with dysfunctional ion channels and currently lack effective treatments. The lab aims to elucidate the molecular mechanisms underlying these diseases through a combined approach using biophysical techniques (microscopy, electrophysiology, numerical simulations) and cellular models, including cutting-edge technologies such as human brain organoids derived from induced pluripotent stem cells. The research also extends to the development of therapeutic strategies (Patent No. 102017000084299).

Research Team
The core members of the research group include:
Dr. Erva Bayraktar (Post-doc, Biochemistry)
Dr. Diego Lopez (Post-doc, Biophysics)
Dr. Enrico Torre (Post-doc, Biology)
Miss Saralea Marino (Ph.D. student, Physics)
Miss Barbara Rijtano (Ph.D. student, Biotechnology)

Notices

Teachings

Publications

Pubblications 2023-2024:

1)Lewy pathology formation in patient-derived GBA1 Parkinson’s disease midbrain organoids.
Frattini, E., et al. Publication Date: November 2024; DOI: doi.org/10.1093/brain/awae365
Journal: BRAIN, awae365.

2)Modeling early phenotypes of Parkinson’s disease by age-induced midbrain-striatum assembloids.
Barmpa, K., et al. Publication Date: November 2024; DOI: 10.1038/s42003-024-07273-4
Journal: COMMUNICATIONS BIOLOGY, 7:1561.

3)Single-Cell Membrane Potential Stimulation and Recording by an Electrolyte-Gated Organic Field-Effect Transistor.
Lago, N., et al. Publication Date: November 2024; DOI: 10.1002/aelm.202400134
Journal: ADVANCED ELECTRONIC MATERIALS, 2400134.

4)Extragonadal function of follicle-stimulating hormone: Evidence for a role in endothelial physiology and dysfunction.
Santa Rocca, M., et al. Publication Date: Sept 2024; DOI: 10.1016/j.mce.2024.112378
Journal: MOLECULAR AND CELLULAR ENDOCRINOLOGY, Volume 594, 112378

5)Calcium Regulation of Connexin Hemichannels.
Erva Bayraktar, Diego Lopez-Pigozzi and Mario Bortolozzi. Publication Date: June 2024; DOI: 10.3390/ijms25126594
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 25(12), 6594.

6)Measuring Connexin Hemichannel Opening in Response to an InsP3-Mediated Cytosolic Ca2+ Increase. Erva Bayraktar and Mario Bortolozzi.
Editors: Fabio Mammano and Mauricio Retamal; Publication Date: 6th April 2024.
ISBN: 978-1-0716-3841-5 (eBook: -3842-2); DOI: 10.1007/978-1-0716-3842-2_14.
Chapter 14 of Connexin Hemichannels: Methods and Protocols, pages 189-197. Volume 2801 of the series Methods in Molecular Biology by Humana Press (part of Springer Nature).

7)New perspectives for gene therapy of the X-linked form of Charcot-Marie-Tooth disease.
Rafael Balada Caballé and Mario Bortolozzi. Publication Date: March 2024; DOI: 10.1016/j.omtm.2023.101184 Journal: MOLECULAR THERAPY METHODS & CLINICAL DEVELOPMENT, 32(1), 6594.

8)Impaired ATP release through Cx32 hemichannels carrying the R220X mutation linked to severe CMT1X. Bayraktar, E., Balada, R., Bortolozzi, M. Publication Date: August 2024; DOI: 10.1111/jns.12648
Astract published in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024) 29, (Supplement 3), P018.

9)Development of an iPCS-based model for the study of peripheral neuropathies. Imran, S., Bayraktar, E., et al. Publication Date: August 2024; DOI: 10.1111/jns.12648
Astract published in JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024) 29, (Supplement 3), P020.

10)Bioelectric Reprogramming of the Bone Marrow Niche in Acute Myeloid Leukemia. Giulia Borella, et al. Publication Date: 28th November 2023; DOI: 10.1182/blood-2023-180815
Astract published in BLOOD (2023) 142 (Supplement 1): 1336.

11)Structure of the connexin-43 gap junction channel in a putative closed state.
Chao Qi, et al. Publication Date: Aug 2023; DOI: 10.7554/eLife.87616.2
Journal: ELIFE, 12:RP87616

12)Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.
Chao Qi, et al. Publication Date: Aug 2023; DOI: 10.1126/sciadv.adh4890
Journal: SCIENCE ADVANCES. Volume 9, Issue 35.