Title:
PROPHYLACTIC OR AMELIORATING AGENT FOR GENETIC DISEASES
Document Type and Number:
WIPO Patent Application WO/2012/001941
Kind Code:
A1
Abstract:
Disclosed is a prophylactic or ameliorating agent for a genetic disease which is induced by the mutation of an exon in a gene and in which an exon that contains the mutation is skipped so as to produce a functional truncated protein. Specifically disclosed is a prophylactic or ameliorating agent for a genetic disease which is induced by the mutation of an exon in a gene and in which an exon that contains the mutation is skipped so as to produce a functional truncated protein, wherein the prophylactic or ameliorating agent is characterized by comprising a compound having a molecular weight of 1500 or less.
Inventors:
HAGIWARA MASATOSHI (JP)
MATSUO MASAFUMI (JP)
KATAOKA NAOYUKI (JP)
NISHIDA ATSUSHI (JP)
MATSUO MASAFUMI (JP)
KATAOKA NAOYUKI (JP)
NISHIDA ATSUSHI (JP)
Application Number:
PCT/JP2011/003655
Publication Date:
January 05, 2012
Filing Date:
June 27, 2011
Export Citation:
Assignee:
HAGIWARA MASATOSHI (JP)
MATSUO MASAFUMI (JP)
KATAOKA NAOYUKI (JP)
NISHIDA ATSUSHI (JP)
MATSUO MASAFUMI (JP)
KATAOKA NAOYUKI (JP)
NISHIDA ATSUSHI (JP)
International Classes:
A61K45/00; A61K31/428; A61P21/04; A61P43/00; C07D277/64; C12N9/12; C12N9/99; C12N15/09
Domestic Patent References:
| WO2009087238A2 | 2009-07-16 |
Foreign References:
| JP2009521408A | 2009-06-04 | |||
| US20050171026A1 | 2005-08-04 |
Other References:
MASATOSHI HAGIWARA ET AL.: "Chemical Biology ni yoru Nanji Shikkan eno Chosen", THE JAPANESE PHARMACOLOGICAL SOCIETY KANTO BUKAI KOEN YOSHISHU, vol. 120TH, 2009, pages 14, XP009173390
MASAFUMI MATSUO: "Becker musclar dystrophy resulted from exon skipping that removes nonsense mutation", GENE & MEDICINE, vol. 3, no. 2, 1999, pages 86 - 90, XP009173686
DISSET A ET AL.: "An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.", HUM. MOL. GENET., vol. 15, no. 6, 2006, pages 999 - 1013
NISHIDA A ET AL.: "Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.", NAT. COMMUN., vol. 2, 10 May 2011 (2011-05-10), XP055144728, DOI: doi:10.1038/ncomms1306
YOMODA J ET AL.: "Combination of Clk family kinase and SRp75 modulates alternative splicing of Adenovirus E1A.", GENES CELLS., vol. 13, no. 3, 2008, pages 233 - 244
MURAKI M ET AL.: "Manipulation of alternative splicing by a newly developed inhibitor of Clks.", J. BIOL. CHEM., vol. 279, no. 23, 2004, pages 24246 - 24254, XP055192700, DOI: doi:10.1074/jbc.M314298200
O'LEARY DA ET AL.: "Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening.", PLOS ONE, vol. 4, no. 12, 2009, XP055083574, DOI: doi:10.1371/journal.pone.0008348
See also references of EP 2586462A4
CELL, vol. 53, 1988, pages 219 - 228
GENOMICS, vol. 2, 1988, pages 90 - 95
PEDIATR RES, vol. 59, 2006, pages 690 - 694
BIOCHEM BIOPHYS RES COMMUN, vol. 226, 1996, pages 445 - 449
J CLIN INVEST, vol. 95, 1995, pages 515 - 520
LANCET NEUROLOGY, vol. 8, 2009, pages 873 - 875
THE NEW ENGLAND JOURNAL OF MEDICINE, vol. 357, 2007, pages 2677 - 2686
LANCET NEUROLOGY, vol. 8, 2009, pages 918 - 928
NATURE MEDICINE, vol. 12, 2006, pages 175 - 177
J CLIN PHARMACOL, vol. 47, 2007, pages 430 - 444
NATURE, vol. 447, 2007, pages 87 - 91
THE JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 279, 2004, pages 24246 - 24252
GENES CELLS, vol. 13, 2008, pages 233 - 244
MOL GENET METAB, vol. 85, 2005, pages 213 - 219
J MED GENET, vol. 43, 2006, pages 924 - 930
HUM GENET, vol. 120, 2007, pages 737 - 742
BIOINFORMATICS, vol. 25, 2009, pages 1211 - 1213
RNA, vol. 13, 2007, pages 1287 - 1300
EMBO J, vol. 13, 1994, pages 1197 - 1204
METHODS MOL BIOL, vol. 488, 2008, pages 357 - 365
THE JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 277, 2002, pages 7540 - 7545
NUCLEIC ACIDS RESEARCH, vol. 23, 1995, pages 3638 - 3641
HUM MOL GENET, vol. 15, 2006, pages 999 - 1013
MOLECULAR CELL, vol. 6, 2000, pages 673 - 682
MOLECULAR CELL, vol. 6, 2000, pages 673 - 682
THE JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 279, 2004, pages 7009 - 7013
NUCLEIC ACIDS RESEARCH, vol. 37, 2009, pages 6515 - 6527
MOLECULAR AND CELLULAR BIOLOGY, vol. 13, 1993, pages 4023 - 4028
PROC NATL ACAD SCI USA, vol. 103, 2006, pages 11329 - 11333
BIOCHEM J, vol. 417, 2009, pages 15 - 27
GENOME BIOL, vol. 10, 2009, pages 242
MASAFUMI MATSUO: "Becker musclar dystrophy resulted from exon skipping that removes nonsense mutation", GENE & MEDICINE, vol. 3, no. 2, 1999, pages 86 - 90, XP009173686
DISSET A ET AL.: "An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.", HUM. MOL. GENET., vol. 15, no. 6, 2006, pages 999 - 1013
NISHIDA A ET AL.: "Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.", NAT. COMMUN., vol. 2, 10 May 2011 (2011-05-10), XP055144728, DOI: doi:10.1038/ncomms1306
YOMODA J ET AL.: "Combination of Clk family kinase and SRp75 modulates alternative splicing of Adenovirus E1A.", GENES CELLS., vol. 13, no. 3, 2008, pages 233 - 244
MURAKI M ET AL.: "Manipulation of alternative splicing by a newly developed inhibitor of Clks.", J. BIOL. CHEM., vol. 279, no. 23, 2004, pages 24246 - 24254, XP055192700, DOI: doi:10.1074/jbc.M314298200
O'LEARY DA ET AL.: "Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening.", PLOS ONE, vol. 4, no. 12, 2009, XP055083574, DOI: doi:10.1371/journal.pone.0008348
See also references of EP 2586462A4
CELL, vol. 53, 1988, pages 219 - 228
GENOMICS, vol. 2, 1988, pages 90 - 95
PEDIATR RES, vol. 59, 2006, pages 690 - 694
BIOCHEM BIOPHYS RES COMMUN, vol. 226, 1996, pages 445 - 449
J CLIN INVEST, vol. 95, 1995, pages 515 - 520
LANCET NEUROLOGY, vol. 8, 2009, pages 873 - 875
THE NEW ENGLAND JOURNAL OF MEDICINE, vol. 357, 2007, pages 2677 - 2686
LANCET NEUROLOGY, vol. 8, 2009, pages 918 - 928
NATURE MEDICINE, vol. 12, 2006, pages 175 - 177
J CLIN PHARMACOL, vol. 47, 2007, pages 430 - 444
NATURE, vol. 447, 2007, pages 87 - 91
THE JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 279, 2004, pages 24246 - 24252
GENES CELLS, vol. 13, 2008, pages 233 - 244
MOL GENET METAB, vol. 85, 2005, pages 213 - 219
J MED GENET, vol. 43, 2006, pages 924 - 930
HUM GENET, vol. 120, 2007, pages 737 - 742
BIOINFORMATICS, vol. 25, 2009, pages 1211 - 1213
RNA, vol. 13, 2007, pages 1287 - 1300
EMBO J, vol. 13, 1994, pages 1197 - 1204
METHODS MOL BIOL, vol. 488, 2008, pages 357 - 365
THE JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 277, 2002, pages 7540 - 7545
NUCLEIC ACIDS RESEARCH, vol. 23, 1995, pages 3638 - 3641
HUM MOL GENET, vol. 15, 2006, pages 999 - 1013
MOLECULAR CELL, vol. 6, 2000, pages 673 - 682
MOLECULAR CELL, vol. 6, 2000, pages 673 - 682
THE JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 279, 2004, pages 7009 - 7013
NUCLEIC ACIDS RESEARCH, vol. 37, 2009, pages 6515 - 6527
MOLECULAR AND CELLULAR BIOLOGY, vol. 13, 1993, pages 4023 - 4028
PROC NATL ACAD SCI USA, vol. 103, 2006, pages 11329 - 11333
BIOCHEM J, vol. 417, 2009, pages 15 - 27
GENOME BIOL, vol. 10, 2009, pages 242
Attorney, Agent or Firm:
HIROTA, Masanori (JP)
Masaki Hirota (JP)
Masaki Hirota (JP)
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