CRMP1, collapsin response mediator protein 1, 1400

N. diseases: 148; N. variants: 42
Disease: Huntington Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.040 Biomarker disease BEFREE Our findings demonstrate that ATAD3A plays a key role in neurodegeneration by linking Drp1-induced mitochondrial fragmentation to defective mtDNA maintenance, suggesting that DA1 might be useful for developing HD therapeutics. 30914652 2019
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.040 Biomarker disease BEFREE Inhibition of Drp1 hyperactivation reduces neuropathology and behavioral deficits in zQ175 knock-in mouse model of Huntington's disease. 30449600 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.040 PosttranslationalModification disease BEFREE Drp1 phosphorylation at serine 616 is increased in HD knock-in mouse derived striatal cells, which is abolished by treatment with U0126, a potent inhibitor of MEK1/2. 29397067 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.040 Biomarker disease BEFREE Our findings indicate that aberrant S-nitrosylation of Drp1 is a prominent pathological feature of neurodegenerative diseases such as AD and HD. 23641925 2013