Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

Fragile X associated tremor/ataxia (FXTAS) affects older males carrying premutation, that is, expansions of the CGG repeat (in the 55-200 range), in the FMR1 gene. The neurological changes are linked to the excessive FMR1 mRNA, becoming toxic through a ‘gain-of-function’. Since elevated levels of th...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Loesch, Danuta Z, Khaniani, Mahmoud S, Slater, Howard R, Rubio, Justin P., Bui, Quang M, Kotschet, Kate, D’Souza, Wendy, Venn, Alison, Kalitsis, Paul, Choo, Andy KH, Burgess, Trent, Johnson, Laura, Evans, Andrew, Horne, Malcolm
Formato: Artigo
Idioma:Inglês
Publicado: 2009
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2888465/
https://ncbi.nlm.nih.gov/pubmed/19796183
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2009.01275.x
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares