Cargando…
What is the Pathogenic CAG Expansion Length in Huntington’s Disease?
Huntington’s disease (HD) (OMIM 143100) is caused by an expanded CAG repeat tract in the HTT gene. The inherited CAG length is known to expand further in somatic and germline cells in HD subjects. Age at onset of the disease is inversely correlated with the inherited CAG length, but is further modul...
Autores principales: | Donaldson, Jasmine, Powell, Sophie, Rickards, Nadia, Holmans, Peter, Jones, Lesley |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
IOS Press
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990448/ https://www.ncbi.nlm.nih.gov/pubmed/33579866 http://dx.doi.org/10.3233/JHD-200445 |
Ejemplares similares
-
Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset
por: McAllister, Branduff, et al.
Publicado: (2022) -
FAN1 modifies Huntington’s disease progression by stabilizing the expanded HTT CAG repeat
por: Goold, Robert, et al.
Publicado: (2019) -
Late-onset Huntington’s disease with 40–42 CAG expansion
por: Capiluppi, Elisa, et al.
Publicado: (2019) -
Huntington’s disease mouse models: unraveling the pathology caused by CAG repeat expansion
por: Kaye, Julia, et al.
Publicado: (2021) -
Case report and literature review of Huntington disease with intermediate CAG expansion
por: Jevtic, Stefan D, et al.
Publicado: (2020)