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and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding of the fatal neurodegenerative disorder and suggest potential ways to delay or even prevent it...
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 ...
The mutation in Huntington disease (HD [MIM 143100; also see The Genome Database [accession number 119307]) is the expansion of a CAG-trinucleotide repeat in the first exon of the HD gene (Huntington Disease Collaborative Research Group 1993). Alleles containing expansions >35 CAG repeats are...
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...
Huntington's disease (HD) is a dominantly inherited disorder in which all affected individuals have precisely the same type of mutation, the expansion of a normally polymorphic CAG trinucleotide repeat in the HD gene, which lengthens a variable polyglutamine tract in the huntingtin protein [1]. Hu...
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...
Interest in biological therapy for cancer has surged due to its precise targeting of cancer cells and minimized impact on surrounding healthy tissues. This
Huntington’s is a devastating genetic disease, described by patients as being like “Parkinson’s, Alzheimer’s and motor neurone disease rolled into one”. In most cases the disorder can be traced back to an inherited genetic mutation which increases the length of the Huntingtin gene. The mut...
Mutations that drive accelerated ageing in prototypical progeria syndromes in humans point to an important role for genome maintenance and stability. Together, these different strands of genetic research are highlighting pathways for the discovery of anti-ageing interventions that may be applicable in ...