NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Defective protein quality control is a key feature of neurodegeneration. Here, the authors show that mutations in Nemf/NEMF, a component of the Ribosome-associated Quality Control complex, have a neurodegenerative effect in mice and may underlie neuromuscular disease in seven unrelated families.

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Detalles Bibliográficos
Autores principales: Paige B. Martin, Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehlivan, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa A. Faqeih, Naif A. M. Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, Ganka Douglas, Jennifer E. Posey, Monique Ryan, James R. Lupski, Nigel G. Laing, Claudio A. P. Joazeiro, Gregory A. Cox
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
Materias:
Science
Q
Acceso en línea:https://doaj.org/article/b025566dc73a49eba1468daddca86ccd
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Sumario:Defective protein quality control is a key feature of neurodegeneration. Here, the authors show that mutations in Nemf/NEMF, a component of the Ribosome-associated Quality Control complex, have a neurodegenerative effect in mice and may underlie neuromuscular disease in seven unrelated families.

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