Linked Life Data

11207421

Source:http://linkedlifedata.com/resource/pubmed/id/11207421

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3-4
pubmed:dateCreated
2001-3-14
pubmed:abstractText
Abundant neurofibrillary lesions consisting of the microtubule associated protein tau and amyloid beta peptide deposits are the defining lesions of Alzheimer's disease. Prominent filamentous tau pathology and brain degeneration in the absence of extracellular amyloid deposition characterize a number of other neurodegenerative disorders (i.e. progressive supranuclear palsy, corticobasal degeneration, Pick's disease) collectively referred to as tauopathies. The discovery of multiple tau gene mutations that are pathogenic for hereditary frontotemporal dementia and parkinsonism linked to chromosome 17 in many kindreds, as well as the demonstration that tau polymorphisms are genetic risk factors for sporadic tauopathies, directly implicate tau abnormalities in the onset/progression of neurodegenerative disease. Different tau gene mutations may be pathogenic by impairing the functions of tau or by perturbing the splicing of the tau gene, thereby resulting in biochemically and structurally distinct tau aggregates. However, since specific polymorphisms and mutations in the tau gene lead to diverse phenotypes, it is plausible that additional genetic or epigenetic factors influence the clinical and pathological manifestations of both familial and sporadic tauopathies. Thus, efforts to develop animal models of tau-mediated neurodegeneration should provide further insights into the onset and progression of tauopathies as well as Alzheimer's disease, and they could accelerate research to discover more effective therapies for these disorders.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0891-0618
pubmed:author
pubmed:issnType
Print
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
225-44
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
New insights into genetic and molecular mechanisms of brain degeneration in tauopathies.
pubmed:affiliation
Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania, 3400 Spruce Street, Maloney Building, 3rd Floor, Philadelphia, PA 19104, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Research Support, Non-U.S. Gov't