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)
French (fr)
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 CA2848454A priority patent/CA2848454C/fr
Priority to US09/830,902 priority patent/US6924126B1/en
Priority to JP2001521734A priority patent/JP2003508074A/ja
Priority to PCT/FR2000/002433 priority patent/WO2001018198A1/fr
Priority to CA2348657A priority patent/CA2348657C/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

    • 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
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P21/00Drugs for disorders of the muscular or neuromuscular system
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • A01K2217/05Animals 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)
  • Investigating Or Analysing Biological Materials (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (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
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
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
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.
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
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 (enExample)
JP (2) JP2003508074A (enExample)
CA (2) CA2348657C (enExample)
FR (1) FR2798138B1 (enExample)
WO (1) WO2001018198A1 (enExample)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2647224C (en) * 2006-03-30 2015-12-29 Duke University Identification of a novel gene underlying familial spastic paraplegia
EP1897891A1 (en) 2006-09-11 2008-03-12 Institut National De La Sante Et De La Recherche Medicale (Inserm) Diagnosis of hereditary spastic paraplegias (HSP) by detection of a mutation in the KIAA1840 gene or protein
WO2009127211A1 (en) * 2008-04-14 2009-10-22 Aarhus Universitet Methods and kits for determining spinal dysmyelination
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
WO1998046743A1 (en) * 1997-04-15 1998-10-22 The Wellcome Trust Limited As Trustee To The Wellcome Trust Novel ldl-receptor
WO1999042622A1 (en) * 1998-02-23 1999-08-26 Dana-Farber Cancer Institute, Inc. Method for identifying mismatch repair glycosylase reactive sites, compound and uses thereof_____________________________________

Also Published As

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

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