"C9orf72 Protein" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A widely-expressed protein of approximately 400 to 500 amino acids. Its N-terminal region (DENN domain) interacts with RAB GTP-BINDING PROTEINS and may regulate AUTOPHAGY, as well as PROTEIN TRANSPORT to ENDOSOMES. Expansion of the GGGGCC hexanucleotide repeat in the first intron of the C9orf72 gene is associated with FRONTOTEMPORAL DEMENTIA with AMYOTROPHIC LATERAL SCLEROSIS (FTDALS1).
| Descriptor ID |
D000073885
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| MeSH Number(s) |
D12.776.141
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "C9orf72 Protein".
Below are MeSH descriptors whose meaning is more specific than "C9orf72 Protein".
This graph shows the total number of publications written about "C9orf72 Protein" by people in this website by year, and whether "C9orf72 Protein" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2019 | 1 | 1 | 2 |
| 2020 | 0 | 4 | 4 |
| 2021 | 1 | 0 | 1 |
| 2023 | 1 | 1 | 2 |
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Below are the most recent publications written about "C9orf72 Protein" by people in Profiles.
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Pathogenic variants in the Longitudinal Early-onset Alzheimer's Disease Study cohort. Alzheimers Dement. 2023 11; 19 Suppl 9:S64-S73.
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Translation of dipeptide repeat proteins in C9ORF72 ALS/FTD through unique and redundant AUG initiation codons. Elife. 2023 09 07; 12.
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A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation. Nat Commun. 2021 10 15; 12(1):6025.
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Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration. Alzheimers Dement. 2020 01; 16(1):49-59.
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Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration. Alzheimers Dement. 2020 01; 16(1):37-48.
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Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint. Alzheimers Dement. 2020 01; 16(1):11-21.
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Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. Alzheimers Dement. 2020 01; 16(1):118-130.
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Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study. Lancet Neurol. 2020 02; 19(2):145-156.
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Genetic screen in a large series of patients with primary progressive aphasia. Alzheimers Dement. 2019 04; 15(4):553-560.
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Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress. Neurobiol Dis. 2018 08; 116:155-165.