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Wiki pages (5)
SciDEX wiki entries that cover this entity. Different pages may focus on the gene, protein, or disease aspects of the same canonical id.
- C9orf72 Protein
C9ORF72["C9ORF72"] C9Orf72_Repeat_Expansion["C9Orf72 Repeat Expansion"] -.->|"downregulates"| C9ORF72
Read more → - c9orf72-expansion
C9orf72-associated disease. --- ## C9orf72 Pathogenesis Mechanisms ```mermaid flowchart TD A["C9orf72
Read more → - c9orf72-als-ftd-phenotype-mechanism
C9ORF72["C9ORF72"] -->|"causes"| ALS["ALS"] C9ORF72["C9ORF72"] -->|"associated with"| Als["Als"] C9ORF72
Read more → - C9orf72 Repeat Expansions in CBS and PSP
C9orf72 repeat length in these conditions[@vaughan2025]. ## C9orf72 Genetics in CBS and PSP ### Frequency
Read more → - c9orf72-protein
C9orf72 Protein | Property | Value | |----------|-------| | **Protein Name** | C9orf72 (Chromosome 9 Open
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Related hypotheses
- Axonal Transport Defect: C9orf72 hexanucleotide expansion impairs retrograde autophagosome transport in motor neuron axons
Mechanistic Overview Axonal Transport Defect: C9orf72 hexanucleotide expansion impairs retrograde autophagosome transport in motor neuron ... axons starts from the claim that modu…
- C9orf72-SMCR8-WDR41 Complex Dysfunction in C9-ALS Rescued by PIKFYVE Inhibition via Lysosomal Exocytosis Restoration
Mechanistic Overview C9orf72-SMCR8-WDR41 Complex Dysfunction in C9-ALS Rescued by PIKFYVE Inhibition ... process. The original description reads: "## Mechanistic Overview C9orf72-…
- C9orf72 DPRs Impair Autophagy Receptor Docking on Stress Granules
hexanucleotide repeat expansion (GGGGCC) in the C9orf72 gene represents the most prevalent genetic cause ... further exacerbated by the fact that C9orf72 DPRs themselves can parti…
- H5: C9orf72 DPR Dipeptides Corrupt G3BP1 Condensate Properties
Mechanism and Rationale** The pathogenic mechanism underlying C9orf72-associated amyotrophic lateral sclerosis (ALS) and frontotemporal ... GGGGCC hexanucleotide repeat expansion…
- PARP1 Inhibition Blocks Poly(PR)-Triggered DNA Damage and Subsequent p53 Activation
GGGGCC hexanucleotide repeat expansion in the C9orf72 gene constitutes the most common genetic cause ... neurodegeneration through three interconnected mechanisms: loss of C9orf72…