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Rubrica

Personale Strutture

Qualifica

Professori Ordinari

Indirizzo

VIA GIUSTINIANI, 3 - PADOVA

Telefono

0498213572

CV of Dr. Leonardo Salviati, MD, PhD

Born: Padova (Italy) November 15th 1969
Present Position: Assistant Professor of Medical Genetics, University of Padova

Academic training
1988-1995 Medical School , University of Padova, degree magna cum laude.
1996-1999 Pediatrics residency program, University of Padova
1999-2002 Post Doctoral Research Fellow. Department of Neurology , Columbia University, New York USA
2001- 2004 PhD program in developmental sciences, University of Padova

Research activity
1994-1995 Department of Biological Chemistry, University of Padova. Prof L.A. Pinna’s lab.
1998-1999 Department of Pediatrics University of Padova. Dr. Maurizio Scarpa’s lab.
1999-2002 Merritt Research Center, Department of Neurology, Columbia University, New York. USA. Eric A. Schon’s lab
2002- Department of Pediatrics University of Padova.

Scholarships
2000-2002 Telethon Italia grant 439b for young researchers
2000-2002 University of Padova scholarship for young researchers abroad.

Honors
1999 G. Bentivoglio prize, University of Padova

His research has focused on the molecular bases of neurometabolic disease, in particular mitochondrial disorders. His group is currently elucidating the genetics of the CoQ biosynthetic pathway in humans and the molecular bases of CoQ deficiency and of cytochrome c oxidase defeciency.

He has co-authored 115 articles published in international peer reviewed journals with a total IF over 600 and Hindex= 32.
He has been awarded grants from both national and international institutions for a total of over € 1.5 M.

Avvisi

Orari di ricevimento

  • Il Lunedi' dalle 15:00 alle 16:30
    presso Segreteria genetica clinica
    Necessario appuntamento. Previo appuntamento è possibile anche il ricevimento in altri giorni

Pubblicazioni

Selected Works (2014-2017)

1: Tezze C, Romanello V, Desbats MA, Fadini GP, Albiero M, Favaro G, Ciciliot S,
Soriano ME, Morbidoni V, Cerqua C, Loefler S, Kern H, Franceschi C, Salvioli S,
Conte M, Blaauw B, Zampieri S, Salviati L, Scorrano L, Sandri M. Age-Associated
Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic
Inflammation, and Epithelial Senescence. Cell Metab. 2017 Jun
6;25(6):1374-1389.e6. d

2: Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino
A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati
L, Zuffardi O. MCM5: a new actor in the link between DNA replication and
Meier-Gorlin syndrome. Eur J Hum Genet. 2017 May;25(5):646-650.

3: Desbats MA, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M,
Sacconi S, Hirano M, Basso G, Pierrel F, Navas P, Salviati L, Trevisson E. The
COQ2 genotype predicts the severity of coenzyme Q10 deficiency. Hum Mol Genet.
2016 Oct 1;25(19):4256-4265.

4: Salah H, Li M, Cacciani N, Gastaldello S, Ogilvie H, Akkad H, Namuduri AV,
Morbidoni V, Artemenko KA, Balogh G, Martinez-Redondo V, Jannig P, Hedström Y,
Dworkin B, Bergquist J, Ruas J, Vigh L, Salviati L, Larsson L. The chaperone
co-inducer BGP-15 alleviates ventilation-induced diaphragm dysfunction. Sci
Transl Med. 2016 Aug 3;8(350):350ra103.

5: Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E,
Salviati L. Coenzyme Q biosynthesis in health and disease. Biochim Biophys Acta.
2016 Aug;1857(8):1079-85.

6: Emma F, Montini G, Parikh SM, Salviati L. Mitochondrial dysfunction in
inherited renal disease and acute kidney injury. Nat Rev Nephrol. 2016
May;12(5):267-80.

7: Trevisson E, Clementi M, Salviati L. Is there a link between COQ6 and
schwannomatosis? Genet Med. 2015 Apr;17(4):312-3.

8: Giorgi G, Casarin A, Trevisson E, Donà M, Cassina M, Graziano C, Picci L,
Clementi M, Salviati L. Validation of CFTR intronic variants identified during
cystic fibrosis population screening by a minigene splicing assay. Clin Chem Lab
Med. 2015 Oct;53(11):1719-23.

9: Nguyen TP, Casarin A, Desbats MA, Doimo M, Trevisson E, Santos-Ocaña C, Navas
P, Clarke CF, Salviati L. Molecular characterization of the human COQ5
C-methyltransferase in coenzyme Q10 biosynthesis. Biochim Biophys Acta. 2014
Nov;1841(11):1628-38.

10: Doimo M, Trevisson E, Airik R, Bergdoll M, Santos-Ocaña C, Hildebrandt F,
Navas P, Pierrel F, Salviati L. Effect of vanillic acid on COQ6 mutants
identified in patients with coenzyme Q10 deficiency. Biochim Biophys Acta. 2014
Jan;1842(1):1-6.

Area di ricerca

The laboratory is currently pursuing three main research lines aimed at understanding the molecular bases, pathophysiology, and therapeutic possibilities for genetic diseases with a particular focus on neurometabolic and neuromuscular disorders. To these purposes, we are developing a set of model organisms (yeast, C.elegans, and now also zebrafish) plus other systems which employ the CRISPR-CAS9 technology

Our main fields of research include

Mitochondrial disorders with particular focus on coenzyme Q deficiency.

Urea-cycle disorders

Genomic disorders