Misfolding and aggregation of huntingtin (Htt) protein results in Huntington's disease (HD), which is the most prevalent inherited neurodegenerative disease. The HD mutation causes an excessively long polyglutamine (polyQ) expansion in the Htt, which makes the protein more prone to aggregate (21441583, 31527136).
Formation, Composition & dynamics (Assembly and disassembly)
Relation to human diseases
Proteome
References
Finkbeiner S. Huntington's Disease. Cold Spring Harb Perspect Biol. 2011 Jun 1;3(6):a007476. doi: 10.1101/cshperspect.a007476. PMID: 21441583; PMCID: PMC3098678.
Aktar F, Burudpakdee C, Polanco M, Pei S, Swayne TC, Lipke PN, Emtage L. The huntingtin inclusion is a dynamic phase-separated compartment. Life Sci Alliance. 2019 Sep 16;2(5):e201900489. doi: 10.26508/lsa.201900489. PMID: 31527136; PMCID: PMC6749095.