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Allele-specific mitochondrial stress induced by Multiple Mitochondrial Dysfunctions Syndrome 1 pathogenic mutations modeled in Caenorhabditis elegans

Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1) is a rare, autosomal recessive disorder caused by mutations in the NFU1 gene. NFU1 is responsible for delivery of iron-sulfur clusters (ISCs) to recipient proteins which require these metallic cofactors for their function. Pathogenic variants of...

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Detalles Bibliográficos
Autores principales: Kropp, Peter A., Wu, Jing, Reidy, Michael, Shrestha, Sanjay, Rhodehouse, Kyle, Rogers, Philippa, Sack, Michael N., Golden, Andy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8428684/
https://www.ncbi.nlm.nih.gov/pubmed/34449775
http://dx.doi.org/10.1371/journal.pgen.1009771