Nature Communications (Sep 2020)
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
- 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
Affiliations
- Paige B. Martin
- The Jackson Laboratory
- Yu Kigoshi-Tansho
- Center for Molecular Biology of Heidelberg University (ZMBH), DKFZ-ZMBH Alliance
- Roger B. Sher
- Department of Neurobiology & Behavior, Stony Brook University
- Gianina Ravenscroft
- Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia
- Jennifer E. Stauffer
- The Jackson Laboratory
- Rajesh Kumar
- Center for Molecular Biology of Heidelberg University (ZMBH), DKFZ-ZMBH Alliance
- Ryo Yonashiro
- Department of Molecular Medicine, Scripps Research
- Tina Müller
- Department of Molecular Medicine, Scripps Research
- Christopher Griffith
- College of Medicine Pediatrics, University of South Florida
- William Allen
- Mission Fullerton Genetics Center, Mission Health
- Davut Pehlivan
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Tamar Harel
- Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center
- Martin Zenker
- Institute of Human Genetics, Otto-von-Guericke University Magdeburg
- Denise Howting
- Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia
- Denny Schanze
- Institute of Human Genetics, Otto-von-Guericke University Magdeburg
- Eissa A. Faqeih
- Department of Genetics, King Fahad Medical City
- Naif A. M. Almontashiri
- The Center for Genetics and Inherited Diseases, Taibah University
- Reza Maroofian
- Neurogenetics Laboratory, UCL Queen Square Institute of Neurology
- Henry Houlden
- Neurogenetics Laboratory, UCL Queen Square Institute of Neurology
- Neda Mazaheri
- Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz
- Hamid Galehdari
- Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz
- Ganka Douglas
- GeneDx, Inc
- Jennifer E. Posey
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Monique Ryan
- Department of Neurology, The Royal Children’s Hospital
- James R. Lupski
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Nigel G. Laing
- Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia
- Claudio A. P. Joazeiro
- Center for Molecular Biology of Heidelberg University (ZMBH), DKFZ-ZMBH Alliance
- Gregory A. Cox
- The Jackson Laboratory
- DOI
- https://doi.org/10.1038/s41467-020-18327-6
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 12
Abstract
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.
