TY  - JOUR
AU  - Goodier, John L.
AU  - Soares, Alisha O.
AU  - Pereira, Gavin C.
AU  - DeVine, Lauren R.
AU  - Sanchez, Laura
AU  - Cole, Robert N.
AU  - García-Pérez, Jose Luis
PY  - 2020
DO  - 10.1186/s40478-020-00982-x
UR  - http://hdl.handle.net/10668/3677
T2  - Acta Neuropathologica Communications
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  - en
PB  - BioMed Central, Springer Nature
KW  - Amyotrophic lateral sclerosis
KW  - Autophagy
KW  - Biomarker
KW  - Mass spectrometry
KW  - Proteasome
KW  - Stress granules
KW  - Ubiquitin
KW  - Esclerosis amiotrófica lateral
KW  - Autofagia
KW  - Biomarcadores
KW  - Espectrometría de masas
KW  - Complejo de la endopetidasa proteasomal
KW  - Ubiquitina
KW  - Proteína C9orf72
KW  - Medical Subject Headings::Diseases::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Amyotrophic Lateral Sclerosis
KW  - Medical Subject Headings::Anatomy::Nervous System::Central Nervous System::Brain
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Chemicals and Drugs::Biological Factors::Biological Markers
KW  - Medical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Cell Death::Autophagy
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Chemistry Techniques, Analytical::Mass Spectrometry
KW  - Medical Subject Headings::Chemicals and Drugs::Macromolecular Substances::Multiprotein Complexes::Multienzyme Complexes::Proteasome Endopeptidase Complex
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Ubiquitins::Ubiquitin
TI  - C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease
TY  - research article
ER  -