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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
1999-3-18
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pubmed:databankReference |
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pubmed:abstractText |
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like intracellular inclusion bodies (Lafora bodies). A gene for EPM2 previously has been mapped to chromosome 6q23-q25 using linkage analysis and homozygosity mapping. Here we report the positional cloning of the 6q EPM2 gene. A microdeletion within the EPM2 critical region, present inhomozygosis in an affected individual, was found to disrupt a novel gene encoding a putative protein tyrosine phosphatase (PTPase). The gene, denoted EPM2, presents alternative splicing in the 5' and 3' end regions. Mutational analysis revealed that EPM2 patients are homozygous for loss-of-function mutations in EPM2. These findings suggest that Lafora disease results from the mutational inactivation of a PTPase activity that may be important in the control of glycogen metabolism.
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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 |
Feb
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pubmed:issn |
0964-6906
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pubmed:author |
pubmed-author:AntaBB,
pubmed-author:AugustijnP BPB,
pubmed-author:BerkovicS FSF,
pubmed-author:DravetCC,
pubmed-author:Gómez-GarrePP,
pubmed-author:GallardoM EME,
pubmed-author:GrimMM,
pubmed-author:LindhoutDD,
pubmed-author:MalafosseR MRM,
pubmed-author:SerratosaJ MJM,
pubmed-author:TassinariC ACA,
pubmed-author:TopcuMM,
pubmed-author:de BernabéD BDB,
pubmed-author:de CórdobaS RSR
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pubmed:issnType |
Print
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
345-52
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:9931343-Amino Acid Sequence,
pubmed-meshheading:9931343-Base Sequence,
pubmed-meshheading:9931343-Chromosomes, Human, Pair 6,
pubmed-meshheading:9931343-DNA,
pubmed-meshheading:9931343-DNA, Complementary,
pubmed-meshheading:9931343-DNA Mutational Analysis,
pubmed-meshheading:9931343-Epilepsies, Myoclonic,
pubmed-meshheading:9931343-Female,
pubmed-meshheading:9931343-Genes,
pubmed-meshheading:9931343-Humans,
pubmed-meshheading:9931343-Male,
pubmed-meshheading:9931343-Microsatellite Repeats,
pubmed-meshheading:9931343-Molecular Sequence Data,
pubmed-meshheading:9931343-Mutation,
pubmed-meshheading:9931343-Pedigree,
pubmed-meshheading:9931343-Polymerase Chain Reaction,
pubmed-meshheading:9931343-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:9931343-Protein Tyrosine Phosphatases,
pubmed-meshheading:9931343-Sequence Alignment,
pubmed-meshheading:9931343-Sequence Homology, Amino Acid
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pubmed:year |
1999
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pubmed:articleTitle |
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).
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pubmed:affiliation |
Laboratorio y Servicio de Neurología and Unidad de Patología Molecular, Fundación Jiménez Díaz,Avenida Reyes Católicos 2, 28040 Madrid, Spain. serratosa@jet.es
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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