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SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

Mitochondrial acyl-coenzyme A species are emerging as important sources of protein modification and damage. Succinyl-CoA ligase (SCL) deficiency causes a mitochondrial encephalomyopathy of unknown pathomechanism. Here, we show that succinyl-CoA accumulates in cells derived from patients with recessi...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Nat Commun
Main Authors: Gut, Philipp, Matilainen, Sanna, Meyer, Jesse G., Pällijeff, Pieti, Richard, Joy, Carroll, Christopher J., Euro, Liliya, Jackson, Christopher B., Isohanni, Pirjo, Minassian, Berge A., Alkhater, Reem A., Østergaard, Elsebet, Civiletto, Gabriele, Parisi, Alice, Thevenet, Jonathan, Rardin, Matthew J., He, Wenjuan, Nishida, Yuya, Newman, John C., Liu, Xiaojing, Christen, Stefan, Moco, Sofia, Locasale, Jason W., Schilling, Birgit, Suomalainen, Anu, Verdin, Eric
פורמט: Artigo
שפה:Inglês
יצא לאור: Nature Publishing Group UK 2020
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC7684291/
https://ncbi.nlm.nih.gov/pubmed/33230181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-19743-4
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