Publications by authors named "Elisa Baschiera"

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A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease.
Davide Doni, Deborah Grifagni, Federica Cavion, Bianca Buchignani, Roberta Battini, Elisa Baschiera

Cell Death Dis· December 2025

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Alterations in peroxisome-mitochondria interplay in skeletal muscle accelerate muscle dysfunction.
Marco Scalabrin, Eloisa Turco, Ilaria Davigo, Riccardo Filadi, Leonardo Nogara, Elisa Baschiera

Nat Commun· November 2025

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Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.
Ugo Sorrentino, Elisa Baschiera, Maria Andrea Desbats, Orsetta Zuffardi, Leonardo Salviati

Am J Med Genet B Neuropsychiatr Genet· March 2025

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Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.
Davide Doni, Federica Cavion, Marco Bortolus, Elisa Baschiera, Silvia Muccioli

Cell Death Dis· January 2024

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Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.
Davide Doni, Federica Cavion, Marco Bortolus, Elisa Baschiera, Silvia Muccioli

Cell Death Dis· December 2023

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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, Maria Andrea Desbats, Leonardo Salviati

Free Radic Biol Med· April 2021

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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, Roberta Peruzzo

FASEB J· March 2021

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Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of Variants.
Valeria Morbidoni, Elisa Baschiera, Monica Forzan, Valentina Fumini, Dario Seif Ali

Cancers (Basel)· February 2021

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Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking .
Manuel J Acosta Lopez, Eva Trevisson, Marcella Canton, Luis Vazquez-Fonseca, Valeria Morbidoni, Elisa Baschiera

Oxid Med Cell Longev· January 2020

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