C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease

C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease

Abstract A pathogenic GGGCCC hexanucleotide expansion in the first intron/promoter region of the C9orf72 gene is the most common mutation associated with amyotrophic lateral sclerosis (ALS). The C9orf72 gene product forms a complex with SMCR8 (Smith-Magenis Syndrome Chromosome Region, Candidate 8) a...

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Bibliographic Details
Main Authors: John L. Goodier, Alisha O. Soares, Gavin C. Pereira, Lauren R. DeVine, Laura Sanchez, Robert N. Cole, Jose Luis García-Pérez
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Acta Neuropathologica Communications
Subjects:
Amyotrophic lateral sclerosis
Autophagy
Biomarker
Mass spectrometry
Proteasome
Stress granules
Online Access:http://link.springer.com/article/10.1186/s40478-020-00982-x

Internet

http://link.springer.com/article/10.1186/s40478-020-00982-x

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