Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease

Huntington's disease (HD) is a devastating neurodegenerative disorder which is inherited in an autosomal dominant manner. HD is caused by a trinucleotide CAG repeat expansion that encodes a polyglutamine stretch in the huntingtin (HTT) protein. Mutant HTT expression leads to a myriad of cellula...

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Detalles Bibliográficos
Autores principales: Vittori, Angelica, Breda, Carlo, Repici, Mariaelena, Orth, Michael, Roos, Raymund A.C., Outeiro, Tiago F., Giorgini, Flaviano, Hollox, Edward J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030768/
https://www.ncbi.nlm.nih.gov/pubmed/24452335
http://dx.doi.org/10.1093/hmg/ddu022

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