Is Huntington disease a developmental disorder?
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منابع مشابه
Is Huntington disease a developmental disorder?
the construction of an organism is a complex process that involves a developmental challenge: the orchestrated proliferation, migration and differentiation of cells, leading to the assembly of organs. Huntingtin—the protein that is mutated in the neurodegenerative disorder Huntington disease—is widely expressed in the early developing mouse embryo, in which it has an essential role. the most co...
متن کاملHuntington disease: a single-gene degenerative disorder of the striatum
Huntington disease (HD) is an autosomal dominant, neurodegenerative disorder with a primary etiology of striatal pathology. The Huntingtin gene (HTT) has a unique feature of a DNA trinucleotide (triplet) repeat, with repeat length ranging from 10 to 35 in the normal population. Repeat lengths between 36 and 39 cause HD at reduced penetrance (some will get the disease, others won't) and when exp...
متن کاملMilestones in huntington disease.
There have been extraordinary advances in our knowledge of the underlying gene, the protein it encodes, various models of disease, and potential targets for effective therapies for Huntington disease. Huntington disease research has increased exponentially in the past 25 years, and we now understand many of the molecular mechanisms underlying the disease. Still, more work needs to be done befor...
متن کاملCase 24. Huntington Disease
● Huntington disease (HD) is a progressive neurological disorder that typically has its onset in the early 40s. ● HD is an autosomal dominant disorder. Genetic testing can determine whether a person has inherited HD prior to the onset of symptoms. ● Because of the lack of treatment for HD, the decision of an asymptomatic at-risk individual to undergo genetic testing is a personal one, based on ...
متن کاملHuntington Disease in Asia
OBJECTIVE The objective was to review the major differences of Huntington disease (HD) in Asian population from those in the Caucasian population. DATA SOURCES Data cited in this review were obtained from PubMed database and China National Knowledge Infrastructure (CNKI) from 1994 to 2014. All the papers were written in English or Chinese languages, with the terms of Asia/Asian, HD, genotype,...
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ژورنال
عنوان ژورنال: EMBO reports
سال: 2010
ISSN: 1469-221X,1469-3178
DOI: 10.1038/embor.2010.182