Linked Life Data

16987883

Source:http://linkedlifedata.com/resource/pubmed/id/16987883

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2006-9-21
pubmed:abstractText
Pathological tau protein inclusions have long been recognized to define the diverse range of neurodegenerative disorders called the tauopathies, which include Alzheimer's disease (AD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration. Mutations in the tau gene, MAPT, cause familial frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), and common variation in MAPT is strongly associated with the risk of PSP, corticobasal degeneration and, to a lesser extent, AD and Parkinson's disease (PD), implicating the involvement of tau in common neurodegenerative pathway(s). This review will discuss recent work towards the unravelling of the functional basis of this MAPT gene association. The region of chromosome 17q21 containing MAPT locus is characterized by the complex genomic architecture, including a large inversion that leads to a bipartite haplotype architecture, an inversion-mediated deletion and multiplications resulting from non-allelic homologous recombination between the MAPT family of low-copy repeats.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
15 Spec No 2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
R188-95
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Untangling the tau gene association with neurodegenerative disorders.
pubmed:affiliation
Reta Lila Weston Institute of Neurological Studies, University College London, 1, Wakefield Street, London WC1N 1PJ, UK.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't