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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Vittori, Angelica, Breda, Carlo, Repici, Mariaelena, Orth, Michael, Roos, Raymund A.C., Outeiro, Tiago F., Giorgini, Flaviano, Hollox, Edward J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2014
Témata:
Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4030768/
https://ncbi.nlm.nih.gov/pubmed/24452335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu022
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky