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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Nature Portfolio
2020
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oai:doaj.org-article:b025566dc73a49eba1468daddca86ccd2021-12-02T15:15:45ZNEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease10.1038/s41467-020-18327-62041-1723https://doaj.org/article/b025566dc73a49eba1468daddca86ccd2020-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-18327-6https://doaj.org/toc/2041-1723Defective 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.Paige B. MartinYu Kigoshi-TanshoRoger B. SherGianina RavenscroftJennifer E. StaufferRajesh KumarRyo YonashiroTina MüllerChristopher GriffithWilliam AllenDavut PehlivanTamar HarelMartin ZenkerDenise HowtingDenny SchanzeEissa A. FaqeihNaif A. M. AlmontashiriReza MaroofianHenry HouldenNeda MazaheriHamid GalehdariGanka DouglasJennifer E. PoseyMonique RyanJames R. LupskiNigel G. LaingClaudio A. P. JoazeiroGregory A. CoxNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-12 (2020) |
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Science Q 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 NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Paige B. Martin |
| title |
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease |
| title_short |
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease |
| title_full |
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease |
| title_fullStr |
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease |
| title_full_unstemmed |
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease |
| title_sort |
nemf mutations that impair ribosome-associated quality control are associated with neuromuscular disease |
| publisher |
Nature Portfolio |
| publishDate |
2020 |
| url |
https://doaj.org/article/b025566dc73a49eba1468daddca86ccd |
| work_keys_str_mv |
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