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Perrault syndrome type 3 caused by diverse molecular defects in CLPP

The maintenance of mitochondrial protein homeostasis (proteostasis) is crucial for correct cellular function. Recently, several mutations in the mitochondrial protease CLPP have been identified in patients with Perrault syndrome 3 (PRLTS3). These mutations can be arranged into two groups, those that...

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Detalles Bibliográficos
Autores principales: Brodie, Erica J., Zhan, Hanmiao, Saiyed, Tamanna, Truscott, Kaye N., Dougan, David A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110781/
https://www.ncbi.nlm.nih.gov/pubmed/30150665
http://dx.doi.org/10.1038/s41598-018-30311-1