Leonardo Salviati
Leonardo Salviati
Professor of medical genetics, Dept. of Women and Children's Health, University of Padova
Verified email at unipd.it
Title
Cited by
Cited by
Year
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
6192013
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
4842012
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
3202006
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
3172011
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
2262013
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
1962008
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
1862009
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
1782005
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
1692002
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
1682008
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
1632017
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
1572002
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
1412013
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 22 (6), 1874-1885, 2008
1372008
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 (1), 145-156, 2015
1352015
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis
JM López-Martín, L Salviati, E Trevisson, G Montini, S DiMauro, C Quinzii, ...
Human molecular genetics 16 (9), 1091-1097, 2007
1312007
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), 3733-3743, 2010
1282010
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
1262016
A functionally dominant mitochondrial DNA mutation
S Sacconi, L Salviati, Y Nishigaki, WF Walker, E Hernandez-Rosa, ...
Human molecular genetics 17 (12), 1814-1820, 2008
1132008
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
1112016
The system can't perform the operation now. Try again later.
Articles 1–20