Huntington’s Disease: Mechanisms of Pathogenesis and …
Huntington's disease is a late-onset neurodegenerative disease caused by a CAG trinucleotide repeat in the gene encoding the huntingtin protein. Despite its well-defined genetic origin, the molecular and cellular mechanisms underlying the disease ...
Huntington's Disease: Mechanisms of Pathogenesis and ... - PubMed
2017年7月5日 · Huntington's disease is a late-onset neurodegenerative disease caused by a CAG trinucleotide repeat in the gene encoding the huntingtin protein. Despite its well-defined genetic origin, the molecular and cellular mechanisms underlying …
Mechanisms of neurodegeneration in Huntington's disease
Huntington's disease (HD) is caused by an expansion of cytosine-adenine-guanine (CAG) repeats in the huntingtin gene, which leads to neuronal loss in the striatum and cortex and to the appearance of neuronal intranuclear inclusions of mutant huntingtin. Huntingtin plays a role in protein trafficking …
Huntington disease: Advances in the understanding of its mechanisms …
2020年1月1日 · Huntington disease (HD) is a devastating monogenic autosomal dominant disorder. HD is caused by a CAG expansion in exon 1 of the gene coding for huntingtin, placed in the short arm of chromosome 4. Despite its well-defined genetic origin, the molecular and cellular mechanisms underlying the disease are unclear and complex.
Pathophysiology of Huntington’s Disease: Time-Dependent …
Huntington’s disease (HD) is a dominantly inherited neurodegenerative disorder caused by an unstable expansion of a CAG repeat within the coding region of the IT15 gene on the short arm of chromosome 4 (The Huntington's Disease Collaborative Research Group, 1993).
Huntington disease: new insights into molecular pathogenesis …
2020年8月14日 · Huntington disease (HD) is a neurodegenerative disease caused by CAG repeat expansion in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms. Mutant HTT (mHTT)...
Molecular Pathophysiological Mechanisms in Huntington’s Disease
Huntington’s disease is an inherited neurodegenerative disease described 150 years ago by George Huntington. The genetic defect was identified in 1993 to be an expanded CAG repeat on exon 1 of the huntingtin gene located on chromosome 4.
Huntington’s Disease Pathogenesis: Mechanisms and Pathways
The discovery in 1993 of the gene responsible for Huntington’s disease (HD) represented a crucial turning point in the HD research field. At the time of the discovery, no one could predict that HD would belong to a large class of inherited neurological diseases all caused by the same type of genetic …
Defining genes and pathways that modify huntingtin CAG repeat …
21 小时之前 · The study used CRISPR–Cas9-bearing Huntington’s disease mice carrying an allele of the Htt gene with 112–119 CAG repeats (Htt Q111 knockin mice), a model that has been previously validated ...
Neuroinflammation and neurodegeneration in Huntington’s disease …
5 天之前 · Huntington’s disease (HDs) is a fatal, autosomal dominant, and hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. ... Neuroinflammatory markers are essential for understanding the mechanisms of Huntington’s disease, monitoring its progression, and developing ...