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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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7684291/
https://www.ncbi.nlm.nih.gov/pubmed/33230181
http://dx.doi.org/10.1038/s41467-020-19743-4