GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneMAPT
Other namesTAU; MSTD; PPND; DDPAC; MAPTL; MTBT1; MTBT2; FTDP-17; FLJ31424; MGC138549
Gene namemicrotubule-associated protein tau
Gene inheritanceSALS genes
Discovery methodGWAS
CategoryNEUROFILAMENTS, CYTOSKELETON AND MICROTUBULE DEFECTS
Chromosome17q21
Genomic CoordinatesChr17:43971748-44105700 ( +)
BackgroundMicrotubule-associated protein tau involved in other neurodegenerative diseases and Guam variant of ALS has neurofibrillary tangles containing aggregates of tau
ResultAssociation reported but p values were weak
Total Mutations0
Total Affected0

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (4)

First_AuthorYearTitlePaper
Boeve2012Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72Full_Paper
Froelich1997Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21 Full_Paper
Kowalska2003Familial amyotrophic lateral sclerosis and parkinsonismdementia complex-tauopathy without mutations in the tau gene?Full_Paper
Poorkaj2001TAU as a susceptibility gene for amyotropic lateral sclerosisparkinsonism dementia complex of GuamFull_Paper