WO2016090001A1 - Mutation intronique profonde avérée dans la maladie des corps polyglucosanes de l'adulte et ses utilisations - Google Patents

Mutation intronique profonde avérée dans la maladie des corps polyglucosanes de l'adulte et ses utilisations Download PDF

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Publication number
WO2016090001A1
WO2016090001A1 PCT/US2015/063439 US2015063439W WO2016090001A1 WO 2016090001 A1 WO2016090001 A1 WO 2016090001A1 US 2015063439 W US2015063439 W US 2015063439W WO 2016090001 A1 WO2016090001 A1 WO 2016090001A1
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WO
WIPO (PCT)
Prior art keywords
seq
mutation
gbe1
nucleic acid
subject
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PCT/US2015/063439
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English (en)
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WO2016090001A9 (fr
Inventor
Hasan Orhan AKMAN
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The Trustees Of Columbia University In The City Of New York
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Application filed by The Trustees Of Columbia University In The City Of New York filed Critical The Trustees Of Columbia University In The City Of New York
Publication of WO2016090001A1 publication Critical patent/WO2016090001A1/fr
Publication of WO2016090001A9 publication Critical patent/WO2016090001A9/fr

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    • 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

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  • 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)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

Cette invention concerne une mutation intronique profonde dans le gène GBE1, et l'utilisation de cette mutation pour dépister, identifier, et diagnostiquer efficacement et correctement la maladie des corps polyglucosanes de l'adulte (APBD) chez les individus qui sont atteints ou risquent de développer l'APBD. L'invention concerne également des amorces et des sondes pour cette méthode, ainsi que des cibles pour la recherche fondamentale en matière d'APBD, et la mise au point d'agents destinés à prévenir ou à traiter l'APBD.
PCT/US2015/063439 2014-12-02 2015-12-02 Mutation intronique profonde avérée dans la maladie des corps polyglucosanes de l'adulte et ses utilisations WO2016090001A1 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201462086476P 2014-12-02 2014-12-02
US62/086,476 2014-12-02

Publications (2)

Publication Number Publication Date
WO2016090001A1 true WO2016090001A1 (fr) 2016-06-09
WO2016090001A9 WO2016090001A9 (fr) 2016-07-07

Family

ID=56092392

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2015/063439 WO2016090001A1 (fr) 2014-12-02 2015-12-02 Mutation intronique profonde avérée dans la maladie des corps polyglucosanes de l'adulte et ses utilisations

Country Status (1)

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WO (1) WO2016090001A1 (fr)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2017120420A1 (fr) * 2016-01-06 2017-07-13 The Trustees Of Columbia University In The City Of New York Utilisation de gaïacol pour la prévention et le traitement de glycogénoses

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
"Adult polyglucosan body disease.", 2012, Retrieved from the Internet <URL:hftp://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=206583> *
AKMAN ET AL.: "Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.", JAMA NEUROL., vol. 72, no. 4, pages 441 - 445 *
ASSERETO ET AL.: "Null mutations and lethal congenital form of glycogen storage disease type IV.", BIOCHEM BIOPHYS RES COMMUN., vol. 361, no. 2, 2007, pages 445 - 450, XP027016335, DOI: doi:10.1016/j.bbrc.2007.07.074 *
FYFE ET AL.: "A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats.", MOL GENET METAB., vol. 90, no. 4, 2007, pages 383 - 392, XP022005723, DOI: doi:10.1016/j.ymgme.2006.12.003 *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2017120420A1 (fr) * 2016-01-06 2017-07-13 The Trustees Of Columbia University In The City Of New York Utilisation de gaïacol pour la prévention et le traitement de glycogénoses
US10933031B2 (en) 2016-01-06 2021-03-02 The Trustees Of Columbia University In The City Of New York Use of guaiacol for the prevention and treatment of glycogen storage disease

Also Published As

Publication number Publication date
WO2016090001A9 (fr) 2016-07-07

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