Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.
Science
; 282(5395): 1914-7, 1998 Dec 04.
Article
in En
| MEDLINE
| ID: mdl-9836646
ABSTRACT
Tau proteins aggregate as cytoplasmic inclusions in a number of neurodegenerative diseases, including Alzheimer's disease and hereditary frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Over 10 exonic and intronic mutations in the tau gene have been identified in about 20 FTDP-17 families. Analyses of soluble and insoluble tau proteins from brains of FTDP-17 patients indicated that different pathogenic mutations differentially altered distinct biochemical properties and stoichiometry of brain tau isoforms. Functional assays of recombinant tau proteins with different FTDP-17 missense mutations implicated all but one of these mutations in disease pathogenesis by reducing the ability of tau to bind microtubules and promote microtubule assembly.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Parkinson Disease, Secondary
/
Brain
/
Tau Proteins
/
Dementia
/
Microtubules
Limits:
Humans
Language:
En
Journal:
Science
Year:
1998
Type:
Article
Affiliation country:
United States