Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy

ACO2 is a mitochondrial protein, which is critically involved in the function of the tricarboxylic acid cycle (TCA), the maintenance of iron homeostasis, oxidative stress defense and the integrity of mitochondrial DNA (mtDNA). Mutations in the ACO2 gene were identified in patients suffering from a b...

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Detalles Bibliográficos
Autores principales: Neumann, Marie Anne-Catherine, Grossmann, Dajana, Schimpf-Linzenbold, Simone, Dayan, Dana, Stingl, Katarina, Ben-Menachem, Reut, Pines, Ophry, Massart, François, Delcambre, Sylvie, Ghelfi, Jenny, Bohler, Jill, Strom, Tim, Kessel, Amit, Azem, Abdussalam, Schöls, Ludger, Grünewald, Anne, Wissinger, Bernd, Krüger, Rejko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7541502/
https://www.ncbi.nlm.nih.gov/pubmed/33028849
http://dx.doi.org/10.1038/s41598-020-73557-4

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