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

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) and WDR41...

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Vydáno v:Acta Neuropathol Commun
Hlavní autoři: Goodier, John L., Soares, Alisha O., Pereira, Gavin C., DeVine, Lauren R., Sanchez, Laura, Cole, Robert N., García-Pérez, Jose Luis
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7364817/
https://ncbi.nlm.nih.gov/pubmed/32678027
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-020-00982-x
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