Linked Life Data

20590813

Source:http://linkedlifedata.com/resource/pubmed/id/20590813

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2010-7-1
pubmed:abstractText
DYT1 dystonia is an autosomal-dominant movement disorder, characterised 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 torsinA. TorsinA is a member of the AAA-ATPase family of; chaperones with multiple functions in the cell. There is no evidence of neurodegeneration in DYT1 dystonia, which suggests that mutant torsinA leads to functional neuronal abnormalities leading to dystonic movements. In the recent years, different functional roles have been attributed to torsinA, including being a component of the cytoskeleton and the nuclear envelope, and involvement in the secretory pathway and synaptic vesicle machinery. The aim of this review is to summarise these findings and the different models proposed, which have contributed to our current understanding of the function of torsinA.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1468-1331
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
17 Suppl 1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
81-7
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
The role of torsinA in dystonia.
pubmed:affiliation
Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, London, UK. a.granata@medsch.ucl.ac.uk
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't