Younkin, Steven G

Publication Detail

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TDP-43 A315T mutation in familial motor neuron disease.

Michael A Gitcho; Robert H Baloh; Sumi Chakraverty; Kevin Mayo; Joanne B Norton; Denise Levitch; Kimmo J Hatanpaa; Charles L White; Eileen H Bigio; Richard Caselli; et al. (Profiled Authors: Morris, John C; Goate, Alison M; Cairns, Nigel J)

Alzheimer's Disease Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Annals of neurology 2008;63(4):535-8.

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 discovery of a missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration.

3 Originating Grant

• 1.

  PETERSEN, RONALD C

  Mayo Alzheimer's Disease Research Center

  1 May 1999 - 30 April 2014

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 25,743,859

• 2.

  MORRIS, JOHN

  ALZHEIMERS DISEASE RESEARCH CENTER

  15 June 1997 - 30 April 2015

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 29,005,627

• 3.

  MORRIS, JOHN

  HEALTHY AGING AND SENILE DEMENTIA

  1 January 1997 - 31 December 2013

  NATIONAL INSTITUTE ON AGING

  Total Funding: $ 30,196,104

Scientific Context

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