TDP-43 A315T mutation in familial motor neuron disease.
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ABSTRACT:
SUBMITTER: Gitcho MA
PROVIDER: S-EPMC2747362 | biostudies-literature | 2008 Apr
REPOSITORIES: biostudies-literature
Publications
TDP-43 A315T mutation in familial motor neuron disease.
Gitcho Michael A MA Baloh Robert H RH Chakraverty Sumi S Mayo Kevin K Norton Joanne B JB Levitch Denise D Hatanpaa Kimmo J KJ White Charles L CL Bigio Eileen H EH Caselli Richard R Baker Matt M Al-Lozi Muhammad T MT Morris John C JC Pestronk Alan A Rademakers Rosa R Goate Alison M AM Cairns Nigel J NJ
Annals of neurology 20080220 4
To identify novel causes of familial neurodegenerative diseases, we extended our previous studies of TAR DNA-binding protein 43 (TDP-43) proteinopathies to investigate TDP-43 as a candidate gene in familial cases of motor neuron disease. Sequencing of the TDP-43 gene led to the identification of a novel missense mutation, Ala-315-Thr, which segregates with all affected members of an autosomal dominant motor neuron disease family. The mutation was not found in 1,505 healthy control subjects. The ...[more]
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