A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease
Year: 2025
Type: article
Language: en
Topic: Mitochondrial Function and Pathology
Authors and affiliations:
raw_author_name: Davide Doni
raw_affiliation_strings: Department of Biology, University of Padova, 35121, Padova, Italy
raw_author_name: Deborah Grifagni
raw_affiliation_strings: Department of Chemistry 'Ugo Schiff' (DICUS), University of Florence, 50019, Sesto Fiorentino, Italy
Magnetic Resonance Center (CERM), University of Florence, 50019, Sesto Fiorentino, Italy
raw_author_name: Federica Cavion
raw_affiliation_strings: Department of Biology, University of Padova, 35121, Padova, Italy
raw_author_name: Bianca Buchignani
raw_affiliation_strings: Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56018, Calambrone, Pisa, Italy
Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy
raw_author_name: Roberta Battini
raw_affiliation_strings: Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56018, Calambrone, Pisa, Italy
raw_author_name: Elisa Baschiera
raw_affiliation_strings: Clinical Genetics Unit, Department of Women's and Children Health, University of Padova, 35128, Padova, Italy
Istituto di Ricerca Pediatrica (IRP) Città della Speranza, 35127, Padova, Italy
raw_author_name: Maria Andrea Desbats
raw_affiliation_strings: Clinical Genetics Unit, Department of Women's and Children Health, University of Padova, 35128, Padova, Italy
Istituto di Ricerca Pediatrica (IRP) Città della Speranza, 35127, Padova, Italy
raw_author_name: Rosa Pasquariello
raw_affiliation_strings: Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56018, Calambrone, Pisa, Italy
raw_author_name: Giuseppina Covello
raw_affiliation_strings: Department of Biology, University of Padova, 35121, Padova, Italy
raw_author_name: Eva De Pascale
raw_affiliation_strings: Department of Biology, University of Padova, 35121, Padova, Italy
raw_author_name: Alice Boarolo
raw_affiliation_strings: Department of Biology, University of Padova, 35121, Padova, Italy
raw_author_name: Ilaria Cestonaro
raw_affiliation_strings: Clinical Genetics Unit, Department of Women's and Children Health, University of Padova, 35128, Padova, Italy
Istituto di Ricerca Pediatrica (IRP) Città della Speranza, 35127, Padova, Italy
raw_author_name: Denis Badocco
raw_affiliation_strings: Department of Chemical Sciences, University of Padova, 35131, Padova, Italy
raw_author_name: Paolo Pastore
raw_affiliation_strings: Department of Chemical Sciences, University of Padova, 35131, Padova, Italy
raw_author_name: Geppo Sartori
raw_affiliation_strings: Department of Biomedical Sciences, University of Padova, 35121, Padova, Italy
raw_author_name: Oliver Stehling
raw_affiliation_strings: Institut für Zytobiologie im Zentrum für Synthetische Mikrobiologie SynMikro, Philipps-Universität Marburg, Marburg, Germany
raw_author_name: Roland Lill
raw_affiliation_strings: Institut für Zytobiologie im Zentrum für Synthetische Mikrobiologie SynMikro, Philipps-Universität Marburg, Marburg, Germany
raw_author_name: Filippo M. Santorelli
raw_affiliation_strings: Neurobiology and Molecular Medicine Unit, IRCCS Fondazione Stella Maris, 56128, Calambrone, Pisa, Italy
raw_author_name: Leonardo Salviati
raw_affiliation_strings: Clinical Genetics Unit, Department of Women's and Children Health, University of Padova, 35128, Padova, Italy
Istituto di Ricerca Pediatrica (IRP) Città della Speranza, 35127, Padova, Italy
raw_author_name: Simone Ciofi-Baffoni
raw_affiliation_strings: Department of Chemistry 'Ugo Schiff' (DICUS), University of Florence, 50019, Sesto Fiorentino, Italy. ciofi@cerm.unifi.it
Magnetic Resonance Center (CERM), University of Florence, 50019, Sesto Fiorentino, Italy. ciofi@cerm.unifi.it
raw_author_name: Paola Costantini
raw_affiliation_strings: Department of Biology, University of Padova, 35121, Padova, Italy. paola.costantini@unipd.it