"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 |
|---|
| 2015 | 0 | 2 | 2 |
| 2016 | 0 | 1 | 1 |
| 2017 | 1 | 2 | 3 |
| 2018 | 2 | 0 | 2 |
| 2019 | 7 | 0 | 7 |
| 2020 | 0 | 1 | 1 |
| 2021 | 0 | 3 | 3 |
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "C9orf72 Protein" by people in Profiles.
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Primary visual cortex pathology in ALS patients with C9ORF72 expansion. Brain Pathol. 2024 Sep; 34(5):e13229.
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Nucleoporins are degraded via upregulation of ESCRT-III/Vps4 complex in Drosophila models of C9-ALS/FTD. Cell Rep. 2022 09 20; 40(12):111379.
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Fast Progression in Amyotrophic Lateral Sclerosis Is Associated With Greater TDP-43 Burden in Spinal Cord. J Neuropathol Exp Neurol. 2021 09 10; 80(8):754-763.
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Synthetic hydrogel mimics of the nuclear pore complex for the study of nucleocytoplasmic transport defects in C9orf72 ALS/FTD. Anal Bioanal Chem. 2022 Jan; 414(1):525-532.
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C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility. Sci Adv. 2021 04; 7(15).
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UPF1 reduces C9orf72 HRE-induced neurotoxicity in the absence of nonsense-mediated decay dysfunction. Cell Rep. 2021 03 30; 34(13):108925.
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p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR). Cell. 2021 02 04; 184(3):689-708.e20.
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TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS. Elife. 2020 12 10; 9.
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Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity. Acta Neuropathol. 2020 02; 139(2):407-410.
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New Roles for Canonical Transcription Factors in Repeat Expansion Diseases. Trends Genet. 2020 02; 36(2):81-92.