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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...
Autores principales: | Brodie, Erica J., Zhan, Hanmiao, Saiyed, Tamanna, Truscott, Kaye N., Dougan, David A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
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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 |
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