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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 |
2001-3-20
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pubmed:abstractText |
Wilson disease is a genetic disorder characterized by the accumulation of copper in the body as a result of a defect of copper excretion from hepatocytes. The intracellular localization of the Wilson disease gene product, ATP7B, was recently identified as the late endosomes. Various mutations have been documented in patients with Wilson disease. The clinical manifestations vary greatly among the patients; however, there is little information on the genotype-phenotype correlation.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Acetylcysteine,
http://linkedlifedata.com/resource/pubmed/chemical/Adenosine Triphosphatases,
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Cation Transport Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Cysteine Endopeptidases,
http://linkedlifedata.com/resource/pubmed/chemical/Leupeptins,
http://linkedlifedata.com/resource/pubmed/chemical/Multienzyme Complexes,
http://linkedlifedata.com/resource/pubmed/chemical/Proteasome Endopeptidase Complex,
http://linkedlifedata.com/resource/pubmed/chemical/Wilson disease protein,
http://linkedlifedata.com/resource/pubmed/chemical/acetylleucyl-leucyl-norleucinal,
http://linkedlifedata.com/resource/pubmed/chemical/lactacystin
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0016-5085
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pubmed:author |
pubmed-author:FurutaKK,
pubmed-author:HanadaSS,
pubmed-author:HaradaMM,
pubmed-author:KawaguchiTT,
pubmed-author:KimMM,
pubmed-author:KimuraRR,
pubmed-author:KogaHH,
pubmed-author:SakisakaSS,
pubmed-author:SataMM,
pubmed-author:SuganumaTT,
pubmed-author:SugiyamaTT,
pubmed-author:TaniguchiEE,
pubmed-author:TeradaKK
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pubmed:issnType |
Print
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pubmed:volume |
120
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
967-74
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11231950-Acetylcysteine,
pubmed-meshheading:11231950-Adenosine Triphosphatases,
pubmed-meshheading:11231950-Carrier Proteins,
pubmed-meshheading:11231950-Cation Transport Proteins,
pubmed-meshheading:11231950-Cell Line,
pubmed-meshheading:11231950-Cysteine Endopeptidases,
pubmed-meshheading:11231950-Cytoskeleton,
pubmed-meshheading:11231950-Fluorescent Antibody Technique,
pubmed-meshheading:11231950-Humans,
pubmed-meshheading:11231950-Leupeptins,
pubmed-meshheading:11231950-Microscopy, Confocal,
pubmed-meshheading:11231950-Microscopy, Electron,
pubmed-meshheading:11231950-Multienzyme Complexes,
pubmed-meshheading:11231950-Mutation,
pubmed-meshheading:11231950-Proteasome Endopeptidase Complex,
pubmed-meshheading:11231950-Tissue Distribution
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pubmed:year |
2001
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pubmed:articleTitle |
A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates.
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pubmed:affiliation |
Second Department of Medicine, Kurume University School of Medicine, Kurume, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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