Leonardo Salviati
Leonardo Salviati
Professor of medical genetics, Dept. of Women and Children's Health, University of Padova
Verified email at
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Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency
S Cogliati, C Frezza, ME Soriano, T Varanita, R Quintana-Cabrera, ...
Cell 155 (1), 160-171, 2013
Sarcopenia: aging-related loss of muscle mass and function
L Larsson, H Degens, M Li, L Salviati, YI Lee, W Thompson, JL Kirkland, ...
Physiological reviews 99 (1), 427-511, 2019
Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells
M Spinazzi, A Casarin, V Pertegato, L Salviati, C Angelini
Nature protocols 7 (6), 1235-1246, 2012
Age-associated loss of OPA1 in muscle impacts muscle mass, metabolic homeostasis, systemic inflammation, and epithelial senescence
C Tezze, V Romanello, MA Desbats, GP Fadini, M Albiero, G Favaro, ...
Cell metabolism 25 (6), 1374-1389. e6, 2017
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
SF Heeringa, G Chernin, M Chaki, W Zhou, AJ Sloan, Z Ji, LX Xie, ...
The Journal of clinical investigation 121 (5), 2013-2024, 2011
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
C Quinzii, A Naini, L Salviati, E Trevisson, P Navas, S DiMauro, M Hirano
The American Journal of Human Genetics 78 (2), 345-349, 2006
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
S Ashraf, HY Gee, S Woerner, LX Xie, V Vega-Warner, S Lovric, H Fang, ...
The Journal of clinical investigation 123 (12), 5179-5189, 2013
Mitochondrial dysfunction in inherited renal disease and acute kidney injury
F Emma, G Montini, SM Parikh, L Salviati
Nature Reviews Nephrology 12 (5), 267-280, 2016
DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass
G Favaro, V Romanello, T Varanita, M Andrea Desbats, V Morbidoni, ...
Nature communications 10 (1), 2576, 2019
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency
G Montini, C Malaventura, L Salviati
New England Journal of Medicine 358 (26), 2849-2850, 2008
Coenzyme Q biosynthesis in health and disease
MJ Acosta, LV Fonseca, MA Desbats, C Cerqua, R Zordan, E Trevisson, ...
Biochimica et Biophysica Acta (BBA)-Bioenergetics 1857 (8), 1079-1085, 2016
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy
Á Rodríguez-Hernández, MD Cordero, L Salviati, R Artuch, M Pineda, ...
Autophagy 5 (1), 19-32, 2009
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency
MA Desbats, G Lunardi, M Doimo, E Trevisson, L Salviati
Journal of inherited metabolic disease 38, 145-156, 2015
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition
L Salviati, S Sacconi, L Murer, G Zacchello, L Franceschini, AM Laverda, ...
Neurology 65 (4), 606-608, 2005
LETM1, deleted in Wolf–Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability
KS Dimmer, F Navoni, A Casarin, E Trevisson, S Endele, A Winterpacht, ...
Human molecular genetics 17 (2), 201-214, 2008
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1
S Sacconi, RJLF Lemmers, J Balog, PJ van Der Vliet, P Lahaut, ...
The American Journal of Human Genetics 93 (4), 744-751, 2013
Mitochondrial DNA depletion and dGK gene mutations
L Salviati, S Sacconi, M Mancuso, D Otaegui, P Camano, A Marina, ...
Annals of neurology 52 (3), 311-317, 2002
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA
M Mancuso, L Salviati, S Sacconi, D Otaegui, P Camano, A Marina, ...
Neurology 59 (8), 1197-1202, 2002
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency
CM Quinzii, LC López, RW Gilkerson, B Dorado, J Coku, AB Naini, ...
The FASEB Journal 24 (10), 3733, 2010
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency
CM Quinzii, LC López, J Von-Moltke, A Naini, S Krishna, M Schuelke, ...
The FASEB journal: official publication of the Federation of American …, 2008
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