A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease
Davide Doni, Deborah Grifagni, Federica Cavion, Bianca Buchignani et autres
1 citationCell Death and Disease
Elisa Baschiera
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10Publications signalées
188Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Mitochondrial Function and PathologyGenetic Neurodegenerative DiseasesPeroxisome Proliferator-Activated ReceptorsAdipose Tissue and MetabolismCoenzyme Q10 studies and effects
Publications récentes
Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction
Marco Scalabrin, E Turco, Ilaria Davigo, Riccardo Filadi et autres
5 citationsNature Communications
Characterization of Two Novel PNKP Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations
Ugo Sorrentino, Elisa Baschiera, María Andrea Desbats, Orsetta Zuffardi et autres
2 citationsAmerican Journal of Medical Genetics Part B Neuropsychiatric Genetics
ALTERATIONS IN PEROXISOMAL-MITOCHONDRIAL INTERPLAY IN SKELETAL MUSCLE ACCELERATES MUSCLE DYSFUNCTION
Marco Scalabrin, E Turco, Leonardo Nogara, Gaia Gherardi et autres
4 citationsbioRxiv (Cold Spring Harbor Laboratory)
Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
Davide Doni, Federica Cavion, Marco Bortolus, Elisa Baschiera et autres
0 citationsCell Death and Disease
Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
Davide Doni, Federica Cavion, Marco Bortolus, Elisa Baschiera et autres
29 citationsCell Death and Disease
The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency
Elisa Baschiera, Ugo Sorrentino, Cristina Calderan, María Andrea Desbats et autres
51 citationsFree Radical Biology and Medicine
Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants
Valeria Morbidoni, Elisa Baschiera, Monica Forzan, Valentina Fumini et autres
34 citationsCancers
The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients
Davide Doni, Giovanni Rigoni, Elisa Palumbo, Elisa Baschiera et autres
15 citationsThe FASEB Journal
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells LackingCOQ6
Manuel J. Acosta Lopez, Eva Trevisson, Marcella Canton, Luis Vázquez-Fonseca et autres
47 citationsOxidative Medicine and Cellular Longevity
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