Leonardo Salviati
Leonardo Salviati
Associate professor of medical genetics, Dept. of Women and Children's Health, University of Padova
Verified email at unipd.it
TitleCited byYear
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
4712013
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, 2012
3762012
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
2972006
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
2882011
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
1982013
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
1802008
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
1742005
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
1652009
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
1612002
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, 2007
1542007
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
1502002
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
1242013
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
1232007
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
1222008
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
1182010
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
1082015
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function
M Spinazzi, S Cazzola, M Bortolozzi, A Baracca, E Loro, A Casarin, ...
Human molecular genetics 17 (21), 3291-3302, 2008
1072008
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
1032008
Treatment of CoQ10 deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time-and compound-dependent effects
LC López, CM Quinzii, E Area, A Naini, S Rahman, M Schuelke, L Salviati, ...
PLoS One 5 (7), e11897, 2010
942010
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
922017
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