Huntington disease (HD) is an inherited, fatal, neurodegenerative disorder. It results from a CAG repeat expansion in the geneHTT, coding for the huntingtin protein. The mutation is translated into an elongated polyglutamine repeat in huntingtin, which leads to the disruption of various cellular sig...
The mutation rate to Huntington's chorea. J Med Genet. 1982 Jun; 19 (3):161–167.Shaw M, Caro A. The mutation rate to Huntington's chorea. J Med Genet 1982;19:161-7.Shaw, M., Caro, A. (1982) The Mutation Rate to Huntington’s Chorea. J. Med. Genet. 19: pp. 161...
Insoluble protein aggregates are the hallmarks of many neurodegenerative diseases. For example, aggregates of TDP-43 occur in nearly all cases of amyotrophic lateral sclerosis (ALS). However, whether aggregates cause cellular toxicity is still not clear, even in simpler cellular systems. We reasoned...
Huntington’s disease is a progressive neurodegenerative disease caused by mutation of the huntingtin (HTT) gene. The identification of mutation carriers before symptom onset provides an opportunity to intervene in the early stage of the disease course. Optimal biomarkers are of great value to reflect...
Huntington’s disease is a devastating neurogenerative disorder caused by a mutation in theHTTgene that results in cells producing abnormally large versions of the huntingtin protein. These expanded huntingtin proteins aggregate inside cells and damage them in various ways, although exactly how this res...
These data provide the first direct in vivo evidence of a role for wild-type htt in decreasing the cellular toxicity of mutant htt.Previous article in issue Next article in issue Introduction The mutation in Huntington disease (HD [MIM 143100; also see The Genome Database [accession number ...
Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an abnormal expansion of polyglutamine repeats in the huntingtin protein (Htt). Transcriptional dysregulation is an early event in the course of HD progression and is thought to contribute to disease pathogenesis, but how ...
Huntington's disease (HD) is caused by the inheritance of the huntingtin gene with an expanded CAG repeat. The function of the normal or mutant form of the huntingtin protein remains to be determined. We used differential display to determine differences in steady-state mRNA levels between wild...
What chromosome has the genetic mutation for Huntington's disease? What genetic mutation causes galactosemia? What type of mutation causes neurofibromatosis? What kind of mutations lead to Huntington' disease: somatic or germline? How can several different mutations cause the same genetic disease?
A. et al. Systems genetics of metabolism: the use of the BXD murine reference panel for multiscalar integration of traits. Cell 150, 1287–1299 (2012). CAS PubMed PubMed Central Google Scholar Youngren, K. K. et al. The Ter mutation in the dead end gene causes germ cell loss and ...