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WO2001029266A3 - Identification of arsacs mutations and methods of use therefor - Google Patents

Identification of arsacs mutations and methods of use therefor Download PDF

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Publication number
WO2001029266A3
WO2001029266A3 PCT/US2000/029130 US0029130W WO0129266A3 WO 2001029266 A3 WO2001029266 A3 WO 2001029266A3 US 0029130 W US0029130 W US 0029130W WO 0129266 A3 WO0129266 A3 WO 0129266A3
Authority
WO
WIPO (PCT)
Prior art keywords
methods
arsacs
mutations
identification
use therefor
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.)
Ceased
Application number
PCT/US2000/029130
Other languages
French (fr)
Other versions
WO2001029266A2 (en
WO2001029266A9 (en
Inventor
Thomas J Hudson
James Engert
Andrea Richter
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.)
McGill University
Centre Hospitalier Universitaire Saint Justine
Original Assignee
McGill University
Centre Hospitalier Universitaire Saint Justine
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 McGill University, Centre Hospitalier Universitaire Saint Justine filed Critical McGill University
Priority to AU12225/01A priority Critical patent/AU1222501A/en
Publication of WO2001029266A2 publication Critical patent/WO2001029266A2/en
Anticipated expiration legal-status Critical
Publication of WO2001029266A9 publication Critical patent/WO2001029266A9/en
Publication of WO2001029266A3 publication Critical patent/WO2001029266A3/en
Ceased 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
    • 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
    • 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
    • C12Q2600/172—Haplotypes

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Peptides Or Proteins (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

Isolated spastin genes and fragments thereof, as well as Spastin proteins and fragments thereof are disclosed. Also disclosed are altered forms of spastin, as well as methods for the diagnosis and treatment of neurodegenerative disease.
PCT/US2000/029130 1999-10-20 2000-10-20 Identification of arsacs mutations and methods of use therefor Ceased WO2001029266A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU12225/01A AU1222501A (en) 1999-10-20 2000-10-20 Identification of arsacs mutations and methods of use therefor

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US16058899P 1999-10-20 1999-10-20
US60/160,588 1999-10-20

Publications (3)

Publication Number Publication Date
WO2001029266A2 WO2001029266A2 (en) 2001-04-26
WO2001029266A9 WO2001029266A9 (en) 2002-05-10
WO2001029266A3 true WO2001029266A3 (en) 2002-07-11

Family

ID=22577507

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2000/029130 Ceased WO2001029266A2 (en) 1999-10-20 2000-10-20 Identification of arsacs mutations and methods of use therefor

Country Status (2)

Country Link
AU (1) AU1222501A (en)
WO (1) WO2001029266A2 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN117820470B (en) * 2024-03-04 2024-05-31 暨南大学 Humanized recombinant anti-Spastin antibody and preparation method and application thereof

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1997032996A1 (en) * 1996-03-06 1997-09-12 Institut National De La Sante Et De La Recherche Medicale (Inserm) Direct molecular diagnosis of friedreich ataxia

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1997032996A1 (en) * 1996-03-06 1997-09-12 Institut National De La Sante Et De La Recherche Medicale (Inserm) Direct molecular diagnosis of friedreich ataxia

Non-Patent Citations (8)

* Cited by examiner, † Cited by third party
Title
BOUCHARD J-P ET AL: "Autosomal recessive spastic ataxia of Charlevoix-Saguenay", NEUROMUSCULAR DISORDERS, vol. 8, no. 7, October 1998 (1998-10-01), pages 474 - 479, XP002192270 *
DATABASE EMBL [online] 17 November 1998 (1998-11-17), "Homo sapiens mRNA for KIAA0730 protein, partial cds.", XP002192274, Database accession no. AB018273 *
DESSEYN J-L ET AL: "Human mucin gene MUC5B, the 10.7-kb large central exon encodes various alternate subdomains resulting in a super-repeat. Structural evidence for a 11p 15.5 gene family.", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 272, no. 6, 1997, pages 3168 - 3178, XP002192269 *
ENGERT J C ET AL: "ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF.", NATURE GENETICS, vol. 24, no. 2, February 2000 (2000-02-01), pages 120 - 125, XP002192273 *
ENGERT J C ET AL: "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): High-resolution physical and transcript map of the candidate region in chromosome region 13q11.", GENOMICS, vol. 62, no. 2, 1 December 1999 (1999-12-01), pages 156 - 164, XP002192272 *
HAZAN J ET AL: "Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia", NATURE GENETICS, vol. 23, no. 11, November 1999 (1999-11-01), pages 296 - 303, XP000914979 *
NAGASE T ET AL: "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro", DNA RESEARCH, vol. 5, 1998, pages 277 - 286, XP002924598 *
RICHTER A ET AL: "Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 64, no. 3, March 1999 (1999-03-01), pages 768 - 775, XP002192271 *

Also Published As

Publication number Publication date
WO2001029266A2 (en) 2001-04-26
AU1222501A (en) 2001-04-30
WO2001029266A9 (en) 2002-05-10

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