About Us
Contact Us
Login to Protein Lounge!

Huntington’s Disease Pathway

This image is a scaled-down version of the actual pathway image. It does not contain any links to the protein information pages.


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 for widespread neuropathology in HD brain, including degeneration of cortical and subcortical structures. mHTT neuronal intranuclear inclusions (NIIs) can be found throughout vulnerable neuronal populations in HD brain (Ref.1).

Huntingtin can also associate with dozens of signal transduction proteins. This cargo includes members of transcription complexes (basal [...]


1.Kinase signalling in Huntington's disease.
Bowles KR, Jones L.
J Huntingtons Dis. 2014;3(2):89-123. doi: 10.3233/JHD-140106. Review.
2.Huntington's Disease and Striatal Signaling.
Roze E, Cahill E, Martin E, Bonnet C, Vanhoutte P, Betuing S, Caboche J.
Front Neuroanat. 2011 Aug 23; 5:55. doi: 10.3389/fnana.2011.00055. eCollection 2011.
You can get all the details on this pathway through subscription