Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

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第一作者： Frederic,Tort

第一单位： Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.

作者： Frederic,Tort ^[1] ; Olatz,Ugarteburu ^[1] ; Laura,Texidó ^[1] ; Sabrina,Gea-Sorlí ^[2] ; Judit,García-Villoria ^[1] ; Xènia,Ferrer-Cortès ^[1] ; Ángela,Arias ^[1] ; Leslie,Matalonga ^[1] ; Laura,Gort ^[1] ; Isidre,Ferrer ^[3] ; Mariona,Guitart-Mampel ^[4] ; Glòria,Garrabou ^[4] ; Frederick M,Vaz ^[5] ; Ana,Pristoupilova ^[6] ; María Isabel Esteban,Rodríguez ^[7] ; Sergi,Beltran ^[8] ; Francesc,Cardellach ^[4] ; Ronald Ja,Wanders ^[5] ; Cristina,Fillat ^[2] ; María Teresa,García-Silva ^[9] ; Antonia,Ribes ^[1]

作者单位： Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain. ^[1] Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universitat de Barcelona, Barcelona, Spain. ^[2] Department of Pathology and Experimental Therapeutics, University of Barcelona; Bellvitge University Hospital; IDIBELL; Network Biomedical Research Center of Neurodegenerative diseases (CIBERNED), Hospitalet de Llobregat, Barcelona, Spain. ^[3] Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine and Health Science-University of Barcelona, Internal Medicine Service-Hospital Clínic of Barcelona, CIBERER, Barcelona, Spain. ^[4] Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Amsterdam, The Netherlands. ^[5] Department of Pediatrics and Adolescent Medicine, Research Unit for Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic.;Centre for Genomic Regulation (CRG), CNAG-CRG, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain. ^[6] Servicio de Anatomía Patológica, Hospital la Paz, Madrid, Spain. ^[7] Centre for Genomic Regulation (CRG), CNAG-CRG, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.;Universitat Pompeu Fabra (UPF), Barcelona, Spain. ^[8] Unidad de Enfermedades Mitocondriales- Enfermedades Metabólicas Hereditarias. Servicio de Pediatría. Universitary Hospital 12 de Octubre, U723 CIBERER, Universidad Complutense, Madrid, Spain. ^[9]

关键词 3-methylglutaconic aciduria TIMM50 mitochondrial disorder mitochondrial function mitochondrial morphology