Mutant human torsinA, responsible for early-onset dystonia, dominantly suppresses GTPCH expression, dopamine levels and locomotion in Drosophila melanogaster

Dystonia represents the third most common movement disorder in humans with over 20 genetic loci identified. TOR1A (DYT1), the gene responsible for the most common primary hereditary dystonia, encodes torsinA, an AAA ATPase family protein. Most cases of DYT1 dystonia are caused by a 3 bp (ΔGAG) delet...

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Sonraí bibleagrafaíochta
Príomhchruthaitheoirí: Noriko Wakabayashi-Ito, Rami R. Ajjuri, Benjamin W. Henderson, Olugbenga M. Doherty, Xandra O. Breakefield, Janis M. O'Donnell, Naoto Ito
Formáid: Alt
Teanga:English
Foilsithe / Cruthaithe: The Company of Biologists 2015-07-01
Sraith:Biology Open
Ábhair:
Rochtain ar líne:http://bio.biologists.org/content/4/5/585