Title:
LGMD GENE CODING FOR A CALCIUM DEPENDENT PROTEASE
Document Type and Number:
WIPO Patent Application WO1996016175
Kind Code:
A3
Abstract:
A nucleic acid sequence comprising: 1) the sequence represented in Figure 8; or 2) the sequence represented in Figure 2; or 3) a part of the sequence of Figure 2 with the proviso that it is able to code for a protein having a calcium dependant protease activity involved in a LGMD2 disease ; or 4) a sequence derived from a sequence defined in 1), 2) or 3) by substitution, deletion or addition of one or more nucleotides with the proviso that said sequence still codes for said protease.
Inventors:
BECKMANN JACQUES (FR)
RICHARD ISABELLE (FR)
RICHARD ISABELLE (FR)
Application Number:
PCT/EP1995/004575
Publication Date:
October 10, 1996
Filing Date:
November 21, 1995
Export Citation:
Assignee:
ASS FR CONTRE LES MYOPATHIES (FR)
BECKMANN JACQUES (FR)
RICHARD ISABELLE (FR)
BECKMANN JACQUES (FR)
RICHARD ISABELLE (FR)
International Classes:
A61K38/46; A61K38/48; A61K48/00; A61P43/00; C07K14/81; C12N5/10; G01N33/15; C12N9/64; C12N15/09; C12N15/57; C12Q1/68; G01N33/50; A61K38/00; (IPC1-7): C12N15/57; C12N9/64; A61K38/48; G01N33/50; C12Q1/68; C12N5/10; A61K48/00
Other References:
RICHARD I ET AL: "Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.", CELL, APR 7 1995, 81 (1) P27-40, UNITED STATES, XP002010548
HIROYUKI SORIMACHI ET AL.: "Molecular cloning of a novel mammalian calcium-dependent protease distinct form both m- and mu-types", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 264, no. 33, 1989, BALTIMORE, MD US, pages 20106 - 20111, XP002010549
HIROYUKI SORIMACHI ET AL.: "A novel tissue-specific calpain species expressed predominantly in the stomach comprises two alternative splicing products with and without Ca2+-binding domain", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 268, no. 26, 1993, BALTIMORE, MD US, pages 19476 - 19482, XP002010550
SHINOBU IMAJOH ET AL.: "Molecular cloning of the cDNA for the large subunit of the High-Ca2+-Requiring form of human Ca2+-activated neutral protease", BIOCHEMISTRY, vol. 27, 1988, EASTON, PA US, pages 8122 - 8128, XP002010551
FOUGEROUSSE F. ET AL.: "Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy", HUMAN MOLECULAR GENETICS, vol. 3, no. 2, February 1994 (1994-02-01), pages 285 - 293, XP002010552
PASSOS-BUENO M. R. ET AL.: "Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families", JOURNAL OF MEDICAL GENETICS, vol. 30, 1993, pages 385 - 387, XP000578358
RICHARD I ET AL: "Regional localization of human chromosome 15 loci.", GENOMICS, OCT 1994, 23 (3) P619-27, UNITED STATES, XP000578720
JOHNSON P. ET AL.: "Calpains (intracellular calcium-activated cysteine proteinases): structure-activity relationships and involvement in normal and abnormal cellular metabolism", INT. J. BIOCHEM., vol. 22, no. 8, 1990, pages 811 - 822, XP002010554
TAKAOMI C. SAIDO ET AL.: "Calpain: new perspectives in molecular diversity and physiological-pathological involvement", FASEB JOURNAL, vol. 8, no. 11, 1994, pages 814 - 822, XP002010555
HIROYUKI SORIMACHI ET AL.: "Molecular cloning of a novel mammalian calcium-dependent protease distinct form both m- and mu-types", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 264, no. 33, 1989, BALTIMORE, MD US, pages 20106 - 20111, XP002010549
HIROYUKI SORIMACHI ET AL.: "A novel tissue-specific calpain species expressed predominantly in the stomach comprises two alternative splicing products with and without Ca2+-binding domain", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 268, no. 26, 1993, BALTIMORE, MD US, pages 19476 - 19482, XP002010550
SHINOBU IMAJOH ET AL.: "Molecular cloning of the cDNA for the large subunit of the High-Ca2+-Requiring form of human Ca2+-activated neutral protease", BIOCHEMISTRY, vol. 27, 1988, EASTON, PA US, pages 8122 - 8128, XP002010551
FOUGEROUSSE F. ET AL.: "Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy", HUMAN MOLECULAR GENETICS, vol. 3, no. 2, February 1994 (1994-02-01), pages 285 - 293, XP002010552
PASSOS-BUENO M. R. ET AL.: "Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families", JOURNAL OF MEDICAL GENETICS, vol. 30, 1993, pages 385 - 387, XP000578358
RICHARD I ET AL: "Regional localization of human chromosome 15 loci.", GENOMICS, OCT 1994, 23 (3) P619-27, UNITED STATES, XP000578720
JOHNSON P. ET AL.: "Calpains (intracellular calcium-activated cysteine proteinases): structure-activity relationships and involvement in normal and abnormal cellular metabolism", INT. J. BIOCHEM., vol. 22, no. 8, 1990, pages 811 - 822, XP002010554
TAKAOMI C. SAIDO ET AL.: "Calpain: new perspectives in molecular diversity and physiological-pathological involvement", FASEB JOURNAL, vol. 8, no. 11, 1994, pages 814 - 822, XP002010555
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