Linked Life Data

20298201

Source:http://linkedlifedata.com/resource/pubmed/id/20298201

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2010-3-19
pubmed:abstractText
DYT1 dystonia is an autosomal dominant movement disorder, characterized by early onset of involuntary sustained muscle contractions. It is caused by a 3-bp deletion in the DYT1 gene, which results in the deletion of a single glutamate residue in the C-terminus of the protein TA (torsinA). TA is a member of the AAA+ (ATPase associated with various cellular activities) family of chaperones with multiple functions in the cell. There is no evidence of neurodegeneration in DYT1 dystonia, which suggests that mutant TA leads to functional neuronal abnormalities, leading to dystonic movements. In recent years, different functional roles have been attributed to TA, including being a component of the cytoskeleton and the NE (nuclear envelope), and involvement in the secretory pathway and SV (synaptic vesicle) machinery. The aim of the present review is to summarize these findings and the different models proposed, which have contributed to our current understanding of the function of TA, and also to discuss the evidence implicating TA in SV function.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1470-8752
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
38
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
452-6
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
TorsinA and DYT1 dystonia: a synaptopathy?
pubmed:affiliation
Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK. t.warner@medsch.ucl.ac.uk
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't