Statements (63)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:protein
|
| gptkbp:associated_with |
gptkb:Amyotrophic_lateral_sclerosis
gptkb:Frontotemporal_dementia cognitive decline neuroinflammation motor neuron degeneration |
| gptkbp:clinical_trial |
gptkb:Bionicle
diagnostic marker prognostic indicator |
| gptkbp:discovered_by |
gptkb:2011
|
| gptkbp:diseases |
gptkb:neurodegenerative_diseases
familial ALS familial FTD |
| gptkbp:function |
RNA binding
|
| gptkbp:genetic_studies |
C9orf72 hexanucleotide repeat expansion
|
| https://www.w3.org/2000/01/rdf-schema#label |
C9orf72 protein
|
| gptkbp:interacts_with |
TDP-43
FUS SMCR8 p62/ SQSTM1 |
| gptkbp:involved_in |
immune response
autophagy stress granule formation |
| gptkbp:is_expressed_in |
gptkb:Brain
|
| gptkbp:location |
gptkb:Atom
|
| gptkbp:pathway |
DNA repair
RNA metabolism apoptosis cell cycle regulation cellular homeostasis cellular metabolism cellular stress response lipid metabolism mitochondrial function neurotransmitter release inflammation cellular aging cellular differentiation extracellular matrix remodeling Wnt signaling calcium signaling tissue repair neuroprotection cell adhesion cell migration cellular communication cellular signaling synaptic function protein homeostasis axon guidance glutamate signaling neurotrophic signaling MAPK signaling NF-k B signaling immune signaling m TOR signaling Rho GTPase signaling |
| gptkbp:promoter |
gptkb:C9orf72
|
| gptkbp:research_focus |
genetic testing
therapeutic targets pathogenesis |
| gptkbp:bfsParent |
gptkb:C9orf72
|
| gptkbp:bfsLayer |
7
|