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WO2002000878A3 - Dynamine mitochondriale humaine msp1, ses isoformes msp1-x, et leur utilisation en therapeutique - Google Patents

Dynamine mitochondriale humaine msp1, ses isoformes msp1-x, et leur utilisation en therapeutique Download PDF

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Publication number
WO2002000878A3
WO2002000878A3 PCT/FR2001/001999 FR0101999W WO0200878A3 WO 2002000878 A3 WO2002000878 A3 WO 2002000878A3 FR 0101999 W FR0101999 W FR 0101999W WO 0200878 A3 WO0200878 A3 WO 0200878A3
Authority
WO
WIPO (PCT)
Prior art keywords
msp1
isoforms
human
concerns
therapeutic use
Prior art date
Application number
PCT/FR2001/001999
Other languages
English (en)
Other versions
WO2002000878A2 (fr
Inventor
Guy Lenaers
Bernard Ducommun
Christian Hamel
Cecile Delettre
Pascale Belenguer
Original Assignee
Univ Toulouse
Inst Nat Sante Rech Med
Guy Lenaers
Bernard Ducommun
Christian Hamel
Cecile Delettre
Pascale Belenguer
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Univ Toulouse, Inst Nat Sante Rech Med, Guy Lenaers, Bernard Ducommun, Christian Hamel, Cecile Delettre, Pascale Belenguer filed Critical Univ Toulouse
Publication of WO2002000878A2 publication Critical patent/WO2002000878A2/fr
Publication of WO2002000878A3 publication Critical patent/WO2002000878A3/fr

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Classifications

    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K14/00Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C07K14/4701Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
    • C07K14/4722G-proteins
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00Medicinal preparations containing peptides

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  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Neurology (AREA)
  • Biochemistry (AREA)
  • Genetics & Genomics (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Toxicology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biomedical Technology (AREA)
  • Biophysics (AREA)
  • Neurosurgery (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Peptides Or Proteins (AREA)
  • Acyclic And Carbocyclic Compounds In Medicinal Compositions (AREA)

Abstract

La présente invention a pour objet une protéine humaine appartenant à la famille des dynamines, appelée MSP1, et ses 7 isoformes MSP1-X, dont les mutations sont en particulier responsables de l'atrophie optique dominante. La présente invention concerne également les séquences nucléotidiques codant ladite protéine, ses isoformes et leurs formes mutées, les vecteurs capables d'exprimer ladite protéine et ses isoformes ou leurs formes mutées, dans tout type de cellules hôtes, ainsi que les cellules transformées par lesdits vecteurs et les procédés les utilisant. L'invention a enfin pour objet des procédés d'identification de composés biologiques ou pharmacologiques modulant l'activité de la protéine d'identification de composés biologiques ou pharmacologiques modulant l'activité de la protéine et de ses isoformes selon l'invention et l'utilisation desdits composés pour la recherche et la fabrication de substances actives utiles en thérapie, en particulier pour la mise au point d'un traitement de l'atrophie optique dominante.
PCT/FR2001/001999 2000-06-26 2001-06-25 Dynamine mitochondriale humaine msp1, ses isoformes msp1-x, et leur utilisation en therapeutique WO2002000878A2 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
FR00/08140 2000-06-26
FR0008140A FR2810673B1 (fr) 2000-06-26 2000-06-26 Dynamine mitochondriale humaine msp1 et son utilisation en therapeutique

Publications (2)

Publication Number Publication Date
WO2002000878A2 WO2002000878A2 (fr) 2002-01-03
WO2002000878A3 true WO2002000878A3 (fr) 2003-04-24

Family

ID=8851656

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/FR2001/001999 WO2002000878A2 (fr) 2000-06-26 2001-06-25 Dynamine mitochondriale humaine msp1, ses isoformes msp1-x, et leur utilisation en therapeutique

Country Status (2)

Country Link
FR (1) FR2810673B1 (fr)
WO (1) WO2002000878A2 (fr)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB0023555D0 (en) * 2000-09-26 2000-11-08 Inst Of Ophthalmology Improvements in and relating to treatments for eye disease
AU2003214048A1 (en) * 2002-01-25 2003-09-02 Develogen Aktiengesellschaft Fur Entwicklungsbiologische Forschung Proteins involved in the regulation of energy homeostasis and organelle metabolism
WO2007056435A2 (fr) * 2005-11-08 2007-05-18 The General Hospital Corporation Maladies mediees par la dynamine et procedes et produits associes
US9144594B2 (en) 2005-11-08 2015-09-29 University Of Miami Cathepsin L mediated diseases and associated methods and products
EP2030021B1 (fr) 2006-05-18 2012-11-21 Andreas Reichert Procédé pour diagnostiquer un dysfonctionnement mitochondrial
CN111518897A (zh) * 2019-02-01 2020-08-11 中国科学院广州生物医药与健康研究院 分子标志物及其应用

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2001053312A1 (fr) * 1999-12-23 2001-07-26 Hyseq, Inc. Nouveaux acides nucleiques et polypeptides

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2001053312A1 (fr) * 1999-12-23 2001-07-26 Hyseq, Inc. Nouveaux acides nucleiques et polypeptides

Non-Patent Citations (9)

* Cited by examiner, † Cited by third party
Title
ALEXANDER C ET AL: "OPA1, ENCODING A DYNAMIN-RELATED GTPASE, IS MUTATED IN AUTOSOMAL DOMINANT OPTIC ATROPHY LINKED TO CHROMOSOME 3Q28", NATURE GENETICS, NATURE AMERICA, NEW YORK, US, vol. 26, no. 2, October 2000 (2000-10-01), pages 211 - 215, XP000993212, ISSN: 1061-4036 *
BROWN JEREMIAH JR ET AL: "Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1).", ARCHIVES OF OPHTHALMOLOGY, vol. 115, no. 1, 1997, pages 95 - 99, XP000993189, ISSN: 0003-9950 *
DATABASE EMBL [online] 10 April 1998 (1998-04-10), OHARA O ET AL: "Homo sapiens mRNA for KIAA0567 protein, partial cds.", XP002166490, Database accession no. AB011139 *
DATABASE EMBL [online] 22 October 2001 (2001-10-22), TANG Y T ET AL: "Human polynucleotide SEQ ID NO 731.", XP002203707, Database accession no. AAI58528 *
DATABASE EMBL [online] 22 October 2001 (2001-10-22), TANG Y T ET AL: "Human polypeptide SEQ ID NO 2517.", XP002203708, Database accession no. AAM39372 *
DELETTRE CECILE ET AL: "Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.", NATURE GENETICS, vol. 26, no. 2, October 2000 (2000-10-01), pages 207 - 210, XP000993218, ISSN: 1061-4036 *
PESCH U E A ET AL: "Genomic structure of a retinal expressed candidate gene for dominant optic atrophy (Kjer type).", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 65, no. 4, October 1999 (1999-10-01), 49th Annual Meeting of the American Society of Human Genetics;San Francisco, California, USA; October 19-23, 1999, pages A378, XP000993287, ISSN: 0002-9297 *
PESCH ULRIKE E A ET AL: "OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.", HUMAN MOLECULAR GENETICS, vol. 10, no. 13, 2001, pages 1359 - 1368, XP002203706, ISSN: 0964-6906 *
VAN DER BLIEK ALEXANDER M: "Functional diversity in the dynamin family.", TRENDS IN CELL BIOLOGY, vol. 9, no. 3, March 1999 (1999-03-01), pages 96 - 102, XP002203705, ISSN: 0962-8924 *

Also Published As

Publication number Publication date
FR2810673B1 (fr) 2004-10-08
WO2002000878A2 (fr) 2002-01-03
FR2810673A1 (fr) 2001-12-28

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