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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2008-5-1
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pubmed:abstractText |
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.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-11285240,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-11908227,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-14667816,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-15826655,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-1671712,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-16924260,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-17023659,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-17084815,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-17469116,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-17579875,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-17591968,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-7745706,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-9197268,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18288693-9641683
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1531-8249
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pubmed:author |
pubmed-author:Al-LoziMuhammad TMT,
pubmed-author:BakerMattM,
pubmed-author:BalohRobert HRH,
pubmed-author:BigioEileen HEH,
pubmed-author:CairnsNigel JNJ,
pubmed-author:CaselliRichardR,
pubmed-author:ChakravertySumiS,
pubmed-author:GitchoMichael AMA,
pubmed-author:GoateAlison MAM,
pubmed-author:HatanpaaKimmo JKJ,
pubmed-author:LevitchDeniseD,
pubmed-author:MayoKevinK,
pubmed-author:MorrisJohn CJC,
pubmed-author:NortonJoanne BJB,
pubmed-author:PestronkAlanA,
pubmed-author:RademakersRosaR,
pubmed-author:WhiteCharles LCL3rd
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pubmed:issnType |
Electronic
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pubmed:volume |
63
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
535-8
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pubmed:dateRevised |
2011-9-26
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pubmed:meshHeading |
pubmed-meshheading:18288693-Aged,
pubmed-meshheading:18288693-Aged, 80 and over,
pubmed-meshheading:18288693-Alanine,
pubmed-meshheading:18288693-Amino Acid Sequence,
pubmed-meshheading:18288693-Amino Acid Substitution,
pubmed-meshheading:18288693-DNA Mutational Analysis,
pubmed-meshheading:18288693-DNA-Binding Proteins,
pubmed-meshheading:18288693-Female,
pubmed-meshheading:18288693-Genes, Dominant,
pubmed-meshheading:18288693-Humans,
pubmed-meshheading:18288693-Male,
pubmed-meshheading:18288693-Middle Aged,
pubmed-meshheading:18288693-Molecular Sequence Data,
pubmed-meshheading:18288693-Motor Neuron Disease,
pubmed-meshheading:18288693-Mutation, Missense,
pubmed-meshheading:18288693-Pedigree,
pubmed-meshheading:18288693-Threonine
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pubmed:year |
2008
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pubmed:articleTitle |
TDP-43 A315T mutation in familial motor neuron disease.
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pubmed:affiliation |
Alzheimer's Disease Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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