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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Publicado en:Sci Rep
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: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2020
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7541502/
https://ncbi.nlm.nih.gov/pubmed/33028849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-73557-4
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