Title:
LAFORA'S DISEASE GENE
Document Type and Number:
WIPO Patent Application WO2000005405
Kind Code:
A3
Abstract:
A novel gene (EPM2A) that is deleted or mutated in people with Lafora's disease is described. The EPM2A gene encodes a protein having an active catalytic site of a protein tyrosine phosphatase. Many different sequence mutations as well as several microdeletions in EPM2A have been found that co-segregate with Lafora's disease.
Inventors:
SCHERER STEPHEN W (CA)
MINASSIAN BERGE A (CA)
DELGADO-ESCUETA ANTONIO (US)
ROULEAU GUY (CA)
MINASSIAN BERGE A (CA)
DELGADO-ESCUETA ANTONIO (US)
ROULEAU GUY (CA)
Application Number:
PCT/CA1999/000646
Publication Date:
May 11, 2000
Filing Date:
July 20, 1999
Export Citation:
Assignee:
SCHERER STEPHEN W (CA)
MINASSIAN BERGE A (CA)
DELGADO ESCUETA ANTONIO (US)
ROULEAU GUY (CA)
MINASSIAN BERGE A (CA)
DELGADO ESCUETA ANTONIO (US)
ROULEAU GUY (CA)
International Classes:
C12N9/16; C12N15/55; C12Q1/68; (IPC1-7): C12Q1/68; C07K14/47; C12N9/16; C12N15/55
Other References:
ROES J., MUELLER W., RAJEWSKY K.: "Mouse anti-mouse IgD monoclonal antibodies generated in IgD-deficient", JOURNAL OF IMMUNOLOGICAL METHODS., ELSEVIER SCIENCE PUBLISHERS B.V.,AMSTERDAM., NL, vol. 183., no. 02., 28 June 1995 (1995-06-28), NL, pages 231 - 237., XP002127924, ISSN: 0022-1759, DOI: 10.1016/0022-1759(95)00059-J
MINASSIAN B ET AL: "Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy", NATURE GENETICS, vol. 20, no. 2, October 1998 (1998-10-01), pages 171 - 74, XP000869599
SERRATOSA J ET AL: "A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)", HUMAN MOLECULAR GENETICS, vol. 8, no. 2, February 1999 (1999-02-01), pages 345 - 52, XP000867126
MINASSIAN B ET AL: "Progesss towards the positional cloning of a gene for Lafora's disease", NEUROLOGY, vol. 48, no. 3 suppl 2, 12 April 1997 (1997-04-12) - 19 April 1997 (1997-04-19), pages A428, XP000866505
SAINZ J ET AL: "Lofora's progressive myoclonus epilepsy : narrowing the chromosome 6Q24 locus by recombinations and homozygosities", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 61, no. 5, 1997, pages 1205 - 09, XP000866531
MINASSIAN B ET AL: "Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy", NATURE GENETICS, vol. 20, no. 2, October 1998 (1998-10-01), pages 171 - 74, XP000869599
SERRATOSA J ET AL: "A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)", HUMAN MOLECULAR GENETICS, vol. 8, no. 2, February 1999 (1999-02-01), pages 345 - 52, XP000867126
MINASSIAN B ET AL: "Progesss towards the positional cloning of a gene for Lafora's disease", NEUROLOGY, vol. 48, no. 3 suppl 2, 12 April 1997 (1997-04-12) - 19 April 1997 (1997-04-19), pages A428, XP000866505
SAINZ J ET AL: "Lofora's progressive myoclonus epilepsy : narrowing the chromosome 6Q24 locus by recombinations and homozygosities", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 61, no. 5, 1997, pages 1205 - 09, XP000866531
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