Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives
Reexamination Certificate
2004-07-08
2009-06-23
Switzer, Juliet C (Department: 1634)
Organic compounds -- part of the class 532-570 series
Organic compounds
Carbohydrates or derivatives
C536S024300
Reexamination Certificate
active
07550571
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.
REFERENCES:
patent: 6825328 (2004-11-01), Scherer et al.
patent: 0705842 (1996-04-01), None
Denu et al. Cell, vol. 87, pp. 361-364.
Serratosa et al. Human Molecular Genetics, Feb. 1999, vol. 8, No. 2, pp. 345-352.
Minassian et al. Nature Genetics, vol. 20, pp. 171-174, Oct. 1998.
GenBank AL023806, GI numbered 3288443, pp. 1-46.
De Jong. Preparation of PAC libraries, Final Technical Report, publication date Dec. 21, 1997, Report No. DOE/ER/61883—1, 7 pages plus cover sheet.
Minassian, B. et al., (Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive Myoclonus epilepsy), Natura Genetics, vol. 20, Oct. 1998, pp. 171-174.
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, Feb. 1999, pp. 345-352.
Minassian, B. et al., (Progress Towards the Positional Cloning of a Gene for Lafora's Disease), Neurology, vol. 48, No. 3, Suppl. 2, Apr. 1997, p. A428.
Sainz, J. et al., (Lafora Progressive Myoclonus Epilepsy: Narrowing the Chromosome 6q24 Locus by Recombinations and Homozygosities), Amer. Journal of Human Genetics, vol. 61, No. 5, 1997, pp. 1205-1209.
Minassian B. et al., (Genetic Locus Heterogeneity in Lafora's Progressive Myoclonus Epilepsy), American Neurological Assoc., 1999, pp. 262-265.
Roes, J. et al., (Mouse anti-mouse IgD monoclonal antibodies generated in IID-deficient mice), Journal of Immunological Methods, 1995, pp. 231-237.
Denu et al., 1996, Cell, vol. 87, pp. 361-364.
GenBank Accession AJ130763, GI 3980308, Dec. 16, 1998.
Delgado-Escueta Antonio
Minassian Berge A.
Rouleu Guy
Scherer Stephen W.
Hamilton Brook Smith & Reynolds P.C.
McGrill University
Switzer Juliet C
The Hospital for Sick Children
The Regents of the University of California
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