TY  - JOUR 
AU  - García Pérez, José Luis
AU  - Sánchez, Laura
AU  - Goodier, John L.
PY  - 2020
UR  - http://hdl.handle.net/10481/63665
AB  - 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...
LA  - eng
PB  - BMC
KW  - Amyotrophic lateral sclerosis
KW  - Autophagy
KW  - Biomarker
KW  - Mass spectrometry
KW  - Proteasome
KW  - Stress granules
KW  - Ubiquitin
TI  - C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease
DO  - 10.1186/s40478-020-00982-x
ER  -