CA2409705A1 - Gene responsable de la dystrophie maculaire dominante de stargardt - Google Patents

Gene responsable de la dystrophie maculaire dominante de stargardt Download PDF

Info

Publication number
CA2409705A1
CA2409705A1 CA002409705A CA2409705A CA2409705A1 CA 2409705 A1 CA2409705 A1 CA 2409705A1 CA 002409705 A CA002409705 A CA 002409705A CA 2409705 A CA2409705 A CA 2409705A CA 2409705 A1 CA2409705 A1 CA 2409705A1
Authority
CA
Canada
Prior art keywords
elf
seq
protein
leu
val
Prior art date
Legal status (The legal status 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 status listed.)
Abandoned
Application number
CA002409705A
Other languages
English (en)
Inventor
Konstantin Petrukhin
Wen Li
Kang Zhang
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Merck and Co Inc
Johns Hopkins University
Original Assignee
Individual
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 Individual filed Critical Individual
Publication of CA2409705A1 publication Critical patent/CA2409705A1/fr
Abandoned legal-status Critical Current

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Landscapes

  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Wood Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • General Chemical & Material Sciences (AREA)
  • Biotechnology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Toxicology (AREA)
  • General Engineering & Computer Science (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Pathology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Peptides Or Proteins (AREA)

Abstract

On a identifié le gène responsable de la dystrophie maculaire de Stargardt, ainsi que sa forme allèle normale. Ce gène mutant code une protéine mutante contenant un décalage de cadre de lecture, ce qui a pour effet une synthèse anormale des acides gras et leur transport dans la rétine. L'invention concerne également des essais concernant la dystrophie maculaire de Stargardt et des thérapies.
CA002409705A 2000-05-16 2001-05-11 Gene responsable de la dystrophie maculaire dominante de stargardt Abandoned CA2409705A1 (fr)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US20499000P 2000-05-16 2000-05-16
US60/204,990 2000-05-16
PCT/US2001/015464 WO2001087921A2 (fr) 2000-05-16 2001-05-11 Gene responsable de la dystrophie maculaire dominante de stargardt

Publications (1)

Publication Number Publication Date
CA2409705A1 true CA2409705A1 (fr) 2001-11-22

Family

ID=22760322

Family Applications (1)

Application Number Title Priority Date Filing Date
CA002409705A Abandoned CA2409705A1 (fr) 2000-05-16 2001-05-11 Gene responsable de la dystrophie maculaire dominante de stargardt

Country Status (3)

Country Link
EP (1) EP1283897A4 (fr)
CA (1) CA2409705A1 (fr)
WO (1) WO2001087921A2 (fr)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2002221404B2 (en) * 2000-11-29 2008-01-03 Xenon Genetics Inc Human elongase genes and uses thereof
KR20110036638A (ko) 2008-07-25 2011-04-07 리차드 더블유. 와그너 단백질 스크리닝 방법
WO2013166037A1 (fr) 2012-05-01 2013-11-07 The Trustees Of Columbia University In The City Of New York Antagonistes non rétinoïdes pour le traitement de troubles oculaires
ES2700541T3 (es) 2013-03-14 2019-02-18 Univ Columbia Octahidrociclopentapirroles, su preparación y uso
US9938291B2 (en) 2013-03-14 2018-04-10 The Trustess Of Columbia University In The City Of New York N-alkyl-2-phenoxyethanamines, their preparation and use
WO2014152013A1 (fr) 2013-03-14 2014-09-25 The Trustees Of Columbia University In The City Of New York 4-phénylpipéridines, leur préparation et leur utilisation
WO2014151936A1 (fr) 2013-03-14 2014-09-25 The Trustees Of Columbia University In The City Of New York Octahydropyrrolopyrroles, leur préparation et leur utilisation
JP6676541B2 (ja) 2014-04-30 2020-04-08 ザ・トラスティーズ・オブ・コランビア・ユニバーシティー・イン・ザ・シティー・オブ・ニューヨーク 置換された４−フェニルピペリジン、その調製及び使用

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU5394100A (en) * 1999-05-20 2000-12-12 Karolinska Innovations Ab Fatty acid elongation genes and uses thereof

Also Published As

Publication number Publication date
EP1283897A2 (fr) 2003-02-19
WO2001087921A3 (fr) 2002-03-14
EP1283897A4 (fr) 2004-08-04
WO2001087921A2 (fr) 2001-11-22

Similar Documents

Publication Publication Date Title
US7179620B2 (en) Gene responsible for stargardt-like dominant macular dystrophy
Handschug et al. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
JP7292836B6 (ja) Ｍｅｃｐ２ｅ１遺伝子
CA2311414A1 (fr) Technique de diagnostique, reactif pour diagnostique et preparation therapeutique pour les maladies provoquees par des modifications survenues dans le gene lkb1
CA2409705A1 (fr) Gene responsable de la dystrophie maculaire dominante de stargardt
EP0815197B1 (fr) Genes de l'intervalle qt long et procede de diagnostic ou de prevention de l'apparition du syndrome a intervalle qt long
US20160215347A1 (en) LaFORA'S DISEASE GENE
WO1996028537A9 (fr) Genes de l'intervalle qt long et procede de diagnostic ou de prevention de l'apparition du syndrome a intervalle qt long
CA2281887C (fr) Sequences d'acides nucleiques pour transporteur a cassette de fixation a l'atp
JP4324472B2 (ja) アトラスチン
JPH11509730A (ja) 早発性アルツハイマー病遺伝子および遺伝子産物
JP4062638B2 (ja) フラビンモノオキシゲナーゼをコードするヌクレオチド配列、これに相当するタンパク質ならびに診断および治療領域におけるそれらの使用
JP2004500077A (ja) ステロイド抵抗性ネフローゼ症候群に関与するｎｐｈｓ２遺伝子、上記遺伝子によりコードされるタンパク質、並びにそれらの診断的及び治療的使用
US20040267000A1 (en) Atherosclerosis susceptibility gene locus 1(athsq1) and atherosclerosis susceptibility gene locus 2 (athsq2)
CA2373466C (fr) Application du gene codant pour l'aprataxine au diagnostic et au traitement de l'ataxie spinocerebelleuse a debut precoce (avec apraxie oculomotrice et hypoalbuminemie)
US7141381B2 (en) Human leucine-rich repeat-containing proteins specifically expressed in the nervous system
US7005290B1 (en) Best's macular dystrophy gene
US20040137450A1 (en) Als2 gene and amyotrophic lateral sclerosis type 2
WO2002072822A2 (fr) Gene sla2 et sclerose laterale amyotrophique de type 2
WO2002027022A2 (fr) Ameliorations relatives aux traitements de maladie des yeux
US20040126858A1 (en) Novel polypeptide-nadp dependent leukotriene b412-hydroxydehydrogenase-36 and the polynucleotide encoding said polypeptide
US7700748B2 (en) VMGLOM gene and its mutations causing disorders with a vascular component
KR100508845B1 (ko) KVLQT1을 코딩하는 장기 QT증후군 유전자 및 KVLQT1과 minK의 결합체
WO2000018787A1 (fr) Mutation de gene associee au syndrome de wolfram
WO1999063078A2 (fr) Gene de sous-unite 1f(alpha) du canal calcique retinal

Legal Events

Date Code Title Description
EEER Examination request
FZDE Dead