FR2798138B1 - Clonage, expression et caracterisation du gene spg4 responsable de la forme la plus frequente de paraplegie spastique autosomique dominante - Google Patents

Clonage, expression et caracterisation du gene spg4 responsable de la forme la plus frequente de paraplegie spastique autosomique dominante

Info

Publication number
FR2798138B1
FR2798138B1 FR9911097A FR9911097A FR2798138B1 FR 2798138 B1 FR2798138 B1 FR 2798138B1 FR 9911097 A FR9911097 A FR 9911097A FR 9911097 A FR9911097 A FR 9911097A FR 2798138 B1 FR2798138 B1 FR 2798138B1
Authority
FR
France
Prior art keywords
cloning
characterization
expression
spastic paraplegia
gene responsible
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.)
Expired - Lifetime
Application number
FR9911097A
Other languages
English (en)
Other versions
FR2798138A1 (fr
Inventor
Jean Weissenbach
Jamile Hazan
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.)
Centre National de la Recherche Scientifique CNRS
Original Assignee
Centre National de la Recherche Scientifique CNRS
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
Priority to FR9911097A priority Critical patent/FR2798138B1/fr
Application filed by Centre National de la Recherche Scientifique CNRS filed Critical Centre National de la Recherche Scientifique CNRS
Priority to JP2001521734A priority patent/JP2003508074A/ja
Priority to US09/830,902 priority patent/US6924126B1/en
Priority to CA2348657A priority patent/CA2348657C/fr
Priority to PCT/FR2000/002433 priority patent/WO2001018198A1/fr
Priority to CA2848454A priority patent/CA2848454C/fr
Publication of FR2798138A1 publication Critical patent/FR2798138A1/fr
Application granted granted Critical
Publication of FR2798138B1 publication Critical patent/FR2798138B1/fr
Priority to US11/155,492 priority patent/US20050266479A1/en
Priority to JP2011158305A priority patent/JP5965594B2/ja
Anticipated expiration legal-status Critical
Expired - Lifetime legal-status Critical Current

Links

Classifications

    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P21/00—Drugs for disorders of the muscular or neuromuscular system
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)

Landscapes

  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Medicinal Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Genetics & Genomics (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Zoology (AREA)
  • Molecular Biology (AREA)
  • Toxicology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Neurology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Orthopedic Medicine & Surgery (AREA)
  • Animal Behavior & Ethology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
FR9911097A 1999-09-03 1999-09-03 Clonage, expression et caracterisation du gene spg4 responsable de la forme la plus frequente de paraplegie spastique autosomique dominante Expired - Lifetime FR2798138B1 (fr)

Priority Applications (8)

Application Number Priority Date Filing Date Title
FR9911097A FR2798138B1 (fr) 1999-09-03 1999-09-03 Clonage, expression et caracterisation du gene spg4 responsable de la forme la plus frequente de paraplegie spastique autosomique dominante
US09/830,902 US6924126B1 (en) 1999-09-03 2000-09-04 Cloning, expression and characterization of the SPG4 gene responsible for the most frequent form of autosomal spastic paraplegia
CA2348657A CA2348657C (fr) 1999-09-03 2000-09-04 Clonage, expression et caracterisation du gene spg4 responsable de la forme la plus frequente de paraplegie spastique autosomique dominante
PCT/FR2000/002433 WO2001018198A1 (fr) 1999-09-03 2000-09-04 Clonage, expression et caracterisation du gene spg4 responsable de la forme la plus frequente de paraplegie spastique autosomique dominante
JP2001521734A JP2003508074A (ja) 1999-09-03 2000-09-04 最も一般的な形態の常染色体性優性遺伝性痙性対麻痺に応答し得るｓｐｇ遺伝子のクローニング、発現および同定
CA2848454A CA2848454C (fr) 1999-09-03 2000-09-04 Clonage, expression et caracterisation du gene spg4 responsable de la forme la plus frequente de paraplegie spastique autosomique dominante.
US11/155,492 US20050266479A1 (en) 1999-09-03 2005-06-20 Cloning, expression and characterization of the SPG4 gene responsible for the most common form of autosomal dominant spastic paraplegia
JP2011158305A JP5965594B2 (ja) 1999-09-03 2011-07-19 最も一般的な形態の常染色体性優性遺伝性痙性対麻痺に応答し得るｓｐｇ遺伝子のクローニング、発現および同定

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
FR9911097A FR2798138B1 (fr) 1999-09-03 1999-09-03 Clonage, expression et caracterisation du gene spg4 responsable de la forme la plus frequente de paraplegie spastique autosomique dominante

Publications (2)

Publication Number Publication Date
FR2798138A1 FR2798138A1 (fr) 2001-03-09
FR2798138B1 true FR2798138B1 (fr) 2004-05-21

Family

ID=9549552

Family Applications (1)

Application Number Title Priority Date Filing Date
FR9911097A Expired - Lifetime FR2798138B1 (fr) 1999-09-03 1999-09-03 Clonage, expression et caracterisation du gene spg4 responsable de la forme la plus frequente de paraplegie spastique autosomique dominante

Country Status (5)

Country Link
US (2) US6924126B1 (fr)
JP (2) JP2003508074A (fr)
CA (2) CA2848454C (fr)
FR (1) FR2798138B1 (fr)
WO (1) WO2001018198A1 (fr)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP5312314B2 (ja) * 2006-03-30 2013-10-09 デューク ユニヴァーシティー 家族性痙性対麻痺の根底にある新規遺伝子の同定
EP1897891A1 (fr) * 2006-09-11 2008-03-12 Institut National De La Sante Et De La Recherche Medicale (Inserm) Diagnose de paraplégie spastique héréditaire par detection d' une mutation dans le gene où la protéine KIAA1840
WO2009127211A1 (fr) * 2008-04-14 2009-10-22 Aarhus Universitet Procédés et kits de dépistage d'une démyélinisation spinale
JP6208104B2 (ja) * 2014-09-16 2017-10-04 株式会社日立製作所 生体認証システム、生体認証処理装置、生体認証方法、生体情報取得端末および情報端末
KR101889072B1 (ko) 2017-09-15 2018-08-16 한국생명공학연구원 디지털 PCR을 이용한 유전성 강직성 대마비(Hereditary spastic paraplegia, HSP) 관련 유전자 SPG4의 거대결손 검증법
CN117820470B (zh) * 2024-03-04 2024-05-31 暨南大学 人源性重组抗Spastin抗体及其制备方法和应用

Family Cites Families (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6197551B1 (en) * 1998-01-27 2001-03-06 Millennium Pharmaceuticals, Inc. Spoil-1 protein and nucleic acid molecules and uses therefor
AU733722B2 (en) * 1997-04-15 2001-05-24 Merck Sharp & Dohme Corp. Novel LDL-receptor
JP2002504352A (ja) * 1998-02-23 2002-02-12 デイナ−ファーバー キャンサー インスティチュート，インコーポレイテッド ミスマッチ修復グリコシラーゼ反応性部位を同定する方法、化合物およびそれらの使用

Also Published As

Publication number Publication date
CA2348657A1 (fr) 2001-03-15
US6924126B1 (en) 2005-08-02
WO2001018198A1 (fr) 2001-03-15
US20050266479A1 (en) 2005-12-01
JP5965594B2 (ja) 2016-08-10
JP2011254824A (ja) 2011-12-22
FR2798138A1 (fr) 2001-03-09
CA2348657C (fr) 2014-07-08
CA2848454A1 (fr) 2001-03-15
CA2848454C (fr) 2018-04-17
JP2003508074A (ja) 2003-03-04

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