Linked Life Data

10488448

Source:http://linkedlifedata.com/resource/pubmed/id/10488448

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1999-11-5
pubmed:abstractText
HD is an autosomal dominant neurodegenerative disorder characterized by involuntary movements, cognitive impairment progressing to dementia, and mood disturbances. The brains of patients show extensive neuronal loss in the striatum, and the cerebral cortex is also affected. The genetic defect causing HD is an expansion of a CAG repeat encoding a polyglutamine stretch in the target protein, named huntingtin. The age of onset of HD is inversely correlated with the size of the expansion. Polyglutamine expansion represents a novel cause of neurodegeneration, which has been shown to be responsible for seven other inherited disorders. The polyglutamine expansion confers a gain of toxic property to the mutated target proteins. Molecular and cellular studies of the brains of patients and of mice models of polyglutamine expansion diseases have led to the identification of abnormal intracellular inclusions representing aggregation of the mutated protein. However, the mechanism whereby such polyglutamine expansion leads to selective neuronal dysfunction and death is still puzzling.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0071-1365
pubmed:author
pubmed:issnType
Print
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
149-63
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Pathological mechanisms in Huntington's disease and other polyglutamine expansion diseases.
pubmed:affiliation
Institut de Génétique et Biologie Moléculaire et Cellulaire, INSERM/CNRS/Université Louis Pasteur, Illkirch, France.
pubmed:publicationType
Journal Article, Review