ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts

Ethylmalonic encephalopathy protein 1 (ETHE1) and molybdenum cofactor (MoCo) deficiencies are hereditary disorders that affect the catabolism of sulfur-containing amino acids. ETHE1 deficiency is caused by mutations in the ETHE1 gene, while MoCo deficiency is due to mutations in one of three genes i...

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Detalles Bibliográficos
Autores principales: Grings, Mateus, Seminotti, Bianca, Karunanidhi, Anuradha, Ghaloul-Gonzalez, Lina, Mohsen, Al-Walid, Wipf, Peter, Palmfeldt, Johan, Vockley, Jerry, Leipnitz, Guilhian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718683/
https://www.ncbi.nlm.nih.gov/pubmed/31477743
http://dx.doi.org/10.1038/s41598-019-49014-2

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