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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 |
2003-9-25
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pubmed:abstractText |
The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity weakness and spasticity. The molecular pathogenesis is poorly understood. We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP), linked to chromosome 15q11-q13 (SPG6 locus); and precisely the same mutation in an unrelated kindred with ADHSP that was too small for meaningful linkage analysis. NIPA1 is highly expressed in neuronal tissues and encodes a putative membrane transporter or receptor. Identification of the NIPA1 function and ligand will aid an understanding of axonal neurodegeneration in HSP and may have important therapeutic implications.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-10610178,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-11094129,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-11438699,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-11685207,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-11694571,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-11701647,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-11898127,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-12112070,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-12194386,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-12355402,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-12566514,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-7825577,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-7854534,
http://linkedlifedata.com/resource/pubmed/commentcorrection/14508710-9417078
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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 |
Oct
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
73
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
967-71
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:14508710-Base Sequence,
pubmed-meshheading:14508710-Female,
pubmed-meshheading:14508710-Genes, Dominant,
pubmed-meshheading:14508710-Humans,
pubmed-meshheading:14508710-Male,
pubmed-meshheading:14508710-Membrane Proteins,
pubmed-meshheading:14508710-Models, Molecular,
pubmed-meshheading:14508710-Mutation,
pubmed-meshheading:14508710-Pedigree,
pubmed-meshheading:14508710-Protein Structure, Secondary,
pubmed-meshheading:14508710-Reference Values,
pubmed-meshheading:14508710-Spastic Paraplegia, Hereditary
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pubmed:year |
2003
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pubmed:articleTitle |
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
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pubmed:affiliation |
Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.
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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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