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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Bibliografske podrobnosti
izdano v:Sci Rep
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2020
Teme:
Article
Online dostop: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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