Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase
Lafora disease (LD) is the only progressive myoclonus epilepsy with polyglucosan bodies. Among conditions with polyglucosan bodies, LD is unique for the subcellular location of its polyglucosans in neuronal perikarya and dendrites and not in axons. Here we report that the protein encoded by the EPM2...
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Published in | Annals of neurology Vol. 49; no. 2; pp. 271 - 275 |
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Main Authors | , , , , , , |
Format | Journal Article |
Language | English |
Published |
New York
John Wiley & Sons, Inc
01.02.2001
Willey-Liss |
Subjects | |
Online Access | Get full text |
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Summary: | Lafora disease (LD) is the only progressive myoclonus epilepsy with polyglucosan bodies. Among conditions with polyglucosan bodies, LD is unique for the subcellular location of its polyglucosans in neuronal perikarya and dendrites and not in axons. Here we report that the protein encoded by the EPM2A gene, which is mutated in LD, localizes at the plasma membrane and the endoplasmic reticulum and that it is a functional protein tyrosine phosphatase. The significance of these findings in the epilepsy of LD and in the origin and characteristic subcellular location of Lafora bodies is discussed. Ann Neurol 2001;49:271–275 |
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Bibliography: | Medical Research Council of Canada (MRC) ArticleID:ANA52 ark:/67375/WNG-XVCN326X-S istex:82FFF16EE660EC8FB7C38944A04924B4D8081D53 Quebec and Sweden Lafora disease associations ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0364-5134 1531-8249 |
DOI: | 10.1002/1531-8249(20010201)49:2<271::AID-ANA52>3.0.CO;2-D |