Abstract:
:The DYT1 gene containing a trinucleotide deletion (DeltaGAG) is linked to early-onset dystonia, a neurological movement disorder of involuntary muscle contractions. To understand DYT1's contribution to dystonia, we produced and analyzed Dyt1 knockdown (KD) mice that expressed a reduced level of torsinA protein encoded by Dyt1. Knockdown mice exhibited deficits in motor control and a decreased trend in dopamine with a significant reduction in 3,4-dihydroxyphenylacetic acid. These alterations are similar to those displayed by previously reported Dyt1 DeltaGAG knockin heterozygous mice, suggesting that the partial loss of torsinA function contributes to the pathology of the disease.
journal_name
Neurosci Resjournal_title
Neuroscience researchauthors
Dang MT,Yokoi F,Pence MA,Li Ydoi
10.1016/j.neures.2006.09.005subject
Has Abstractpub_date
2006-12-01 00:00:00pages
470-4issue
4eissn
0168-0102issn
1872-8111pii
S0168-0102(06)00230-6journal_volume
56pub_type
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