Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

Biallelic pathogenic variants in CLPP, encoding mitochondrial matrix peptidase ClpP, cause a rare autosomal recessive condition, Perrault syndrome type 3 (PRLTS3). It is characterized by primary ovarian insufficiency and early sensorineural hearing loss, often associated with progressive neurologica...

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Detalles Bibliográficos
Autores principales: Key, Jana, Torres-Odio, Sylvia, Bach, Nina C., Gispert, Suzana, Koepf, Gabriele, Reichlmeir, Marina, West, A. Phillip, Prokisch, Holger, Freisinger, Peter, Newman, William G., Shalev, Stavit, Sieber, Stephan A., Wittig, Ilka, Auburger, Georg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8699119/
https://www.ncbi.nlm.nih.gov/pubmed/34943861
http://dx.doi.org/10.3390/cells10123354

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