Pathways
Huntington's Disease Pathway
Description:
HD (Huntington's disease) is an autosomal dominant monogenic neurodegenerative disorder caused by an expanded CAG repeat in the HTT (huntingtin) gene, resulting in a mHTT (mutant HTT) protein carrying an expanded polyQ (polyglutamine) repeat on exon1. HD is characterised primarily by motor disturbances, but is commonly accompanied by cognitive impairments and psychiatric abnormalities. Progressive striatal neurodegeneration is a hallmark of HD that can be identified prior to motor symptom onset, however there is evidence ...
References:
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Kinase signalling in Huntington's disease.
J Huntingtons Dis. 2014;3(2):89-123. doi: 10.3233/JHD-140106. Review. -
Huntington's Disease and Striatal Signaling.
Front Neuroanat. 2011 Aug 23; 5:55. doi: 10.3389/fnana.2011.00055. eCollection 2011. -
A small molecule p75NTR ligand normalizes signalling and reduces Huntington's disease phenotypes in R6/2 and BACHD mice.
Hum Mol Genet. 2016 Nov 15; 25(22):4920-4938. doi: 10.1093/hmg/ddw316. -
A novel target for Huntington's disease: ERK at the crossroads of signaling. The ERK signaling pathway is implicated in Huntington's disease and its upregulation ameliorates pathology.
Bioessays. 2012 Feb; 34(2):142-8.
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