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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 |
2003-3-31
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pubmed:abstractText |
Impaired axonal transport in motor neurons has been proposed as a mechanism for neuronal degeneration in motor neuron disease. Here we show linkage of a lower motor neuron disease to a region of 4 Mb at chromosome 2p13. Mutation analysis of a gene in this interval that encodes the largest subunit of the axonal transport protein dynactin showed a single base-pair change resulting in an amino-acid substitution that is predicted to distort the folding of dynactin's microtubule-binding domain. Binding assays show decreased binding of the mutant protein to microtubules. Our results show that dysfunction of dynactin-mediated transport can lead to human motor neuron disease.
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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 |
1061-4036
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pubmed:author |
pubmed-author:BidusKimberlyK,
pubmed-author:BrownRobert HRHJr,
pubmed-author:DraynaDennisD,
pubmed-author:FischbeckKenneth HKH,
pubmed-author:FloeterMary KayMK,
pubmed-author:HolzbaurErika L FEL,
pubmed-author:JonnakutyCatherineC,
pubmed-author:LaMonteBernadette HBH,
pubmed-author:LudlowChristy LCL,
pubmed-author:MannEricE,
pubmed-author:OhShin JSJ,
pubmed-author:PulsImkeI,
pubmed-author:TokitoMarikoM
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pubmed:issnType |
Print
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pubmed:volume |
33
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
455-6
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:12627231-Amino Acid Motifs,
pubmed-meshheading:12627231-Animals,
pubmed-meshheading:12627231-Biological Transport,
pubmed-meshheading:12627231-Centromere,
pubmed-meshheading:12627231-Chromosomes, Human, Pair 2,
pubmed-meshheading:12627231-Cloning, Molecular,
pubmed-meshheading:12627231-Drosophila,
pubmed-meshheading:12627231-Genetic Linkage,
pubmed-meshheading:12627231-Humans,
pubmed-meshheading:12627231-Mice,
pubmed-meshheading:12627231-Mice, Transgenic,
pubmed-meshheading:12627231-Microtubule-Associated Proteins,
pubmed-meshheading:12627231-Microtubules,
pubmed-meshheading:12627231-Models, Genetic,
pubmed-meshheading:12627231-Models, Molecular,
pubmed-meshheading:12627231-Motor Neuron Disease,
pubmed-meshheading:12627231-Mutation,
pubmed-meshheading:12627231-Protein Binding,
pubmed-meshheading:12627231-Protein Structure, Secondary,
pubmed-meshheading:12627231-Protein Structure, Tertiary,
pubmed-meshheading:12627231-Protein Transport,
pubmed-meshheading:12627231-Recombination, Genetic
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pubmed:year |
2003
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pubmed:articleTitle |
Mutant dynactin in motor neuron disease.
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pubmed:affiliation |
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA. pulsi@ninds.nih.gov
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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