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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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2020-07-01
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| coleção: | Acta Neuropathologica Communications |
| Assuntos: | |
| Acesso em linha: | http://link.springer.com/article/10.1186/s40478-020-00982-x |
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