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WO2003045998A3 - Polynucléotide et protéine impliqués dans la synaptogenèse, variants de ceux-ci, et leurs applications thérapeutiques et diagnostiques. - Google Patents

Polynucléotide et protéine impliqués dans la synaptogenèse, variants de ceux-ci, et leurs applications thérapeutiques et diagnostiques. Download PDF

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Publication number
WO2003045998A3
WO2003045998A3 PCT/FR2002/004134 FR0204134W WO03045998A3 WO 2003045998 A3 WO2003045998 A3 WO 2003045998A3 FR 0204134 W FR0204134 W FR 0204134W WO 03045998 A3 WO03045998 A3 WO 03045998A3
Authority
WO
WIPO (PCT)
Prior art keywords
hnl4y
hnl4x
mutated
syndrome
polynucleotides
Prior art date
Application number
PCT/FR2002/004134
Other languages
English (en)
Other versions
WO2003045998A2 (fr
Inventor
Thomas Bourgeron
Stephane Jamain
Helene Quach
Catalina Betancur
Marion Leboyer
Christopher Gillberg
Original Assignee
Inst Nat Sante Rech Med
Pasteur Institut
Assist Publ Hopitaux De Paris
Thomas Bourgeron
Stephane Jamain
Helene Quach
Catalina Betancur
Marion Leboyer
Christopher Gillberg
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 Inst Nat Sante Rech Med, Pasteur Institut, Assist Publ Hopitaux De Paris, Thomas Bourgeron, Stephane Jamain, Helene Quach, Catalina Betancur, Marion Leboyer, Christopher Gillberg filed Critical Inst Nat Sante Rech Med
Priority to AU2002364808A priority Critical patent/AU2002364808A1/en
Priority to EP02801090A priority patent/EP1453861A2/fr
Priority to US10/496,011 priority patent/US7384740B2/en
Publication of WO2003045998A2 publication Critical patent/WO2003045998A2/fr
Publication of WO2003045998A3 publication Critical patent/WO2003045998A3/fr
Priority to US11/931,784 priority patent/US7906640B2/en
Priority to US11/932,220 priority patent/US20090117554A1/en

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
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system

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  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Medicinal Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Toxicology (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Cell Biology (AREA)
  • Neurology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Biomedical Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Neurosurgery (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Peptides Or Proteins (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)

Abstract

La présente invention concerne l'identification de gènes humains codant pour une protéine impliquée dans la synaptogenèse et dont la mutation est associée chez l'homme au développement de maladies neurologiques et/ou à une prédisposition au développement de désordres mentaux ou maladies psychiatriques tels que l'autisme et le syndrome d'Asperge. Plus particulièrement, l'invention vise une protéine appartenant à la famille des neuroligines humaines (HNLs) et plus particulièrement la protéine HNL4X et son homologue fonctionnel HNL4Y codé par un gène du chromosome Y. L'invention vise également les polynucléotides codant pour les protéines HNL4X et HNL4Y mutées ou non et HNL3 mutées, les vecteurs d'expression cellulaire comprenant les séquences d'acides nucléiques exprimant HNL3, HNL4X, HNL4Y mutées ou non, et les anticorps polyclonaux ou monoclonaux capables de se fixer sur un de ces peptides et/ou polynucléotides mentionnés précédemment. La présente invention concerne également l'utilisation de polypeptides, de polynucléotides, un vecteur, une cellule hôte, et/ou un anticorps tel que définis précédemment pour la préparation d'une composition utile dans le traitement d'une maladie mentale ou neurologique telle l'autisme, le syndrome d'Asperge, la schizophrénie ou le syndrome ADHB.
PCT/FR2002/004134 2001-11-30 2002-12-02 Polynucléotide et protéine impliqués dans la synaptogenèse, variants de ceux-ci, et leurs applications thérapeutiques et diagnostiques. WO2003045998A2 (fr)

Priority Applications (5)

Application Number Priority Date Filing Date Title
AU2002364808A AU2002364808A1 (en) 2001-11-30 2002-12-02 Polynucleotide and protein involved in synaptogenesis, variants thereof, and their therapeutic and diagnostic uses
EP02801090A EP1453861A2 (fr) 2001-11-30 2002-12-02 Polynucleotide et proteine impliques dans la synaptogenese, variants de ceux-ci et leurs applications therapeutiques et diagnostiques
US10/496,011 US7384740B2 (en) 2001-11-30 2002-12-02 Polynucleotide and protein involved in synaptogenesis variants thereof and their therapeutic and diagnostic uses
US11/931,784 US7906640B2 (en) 2001-11-30 2007-10-31 Polynucleotide and protein involved in synaptogenesis, variants thereof, and their therapeutic and diagnostic uses
US11/932,220 US20090117554A1 (en) 2001-11-30 2007-10-31 Polynucleotide and protein involved in synaptogenesis, variants thereof, and their therapeutic and diagnostic uses

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
CA002364106A CA2364106A1 (fr) 2001-11-30 2001-11-30 Polynucleotide et proteine impliques dans la synaptogenese, variants de ceux-ci, et leurs applications therapeutiques et diagnostiques
CA2364106 2001-11-30

Related Child Applications (3)

Application Number Title Priority Date Filing Date
US10496011 A-371-Of-International 2002-12-02
US11/932,220 Division US20090117554A1 (en) 2001-11-30 2007-10-31 Polynucleotide and protein involved in synaptogenesis, variants thereof, and their therapeutic and diagnostic uses
US11/931,784 Continuation US7906640B2 (en) 2001-11-30 2007-10-31 Polynucleotide and protein involved in synaptogenesis, variants thereof, and their therapeutic and diagnostic uses

Publications (2)

Publication Number Publication Date
WO2003045998A2 WO2003045998A2 (fr) 2003-06-05
WO2003045998A3 true WO2003045998A3 (fr) 2004-04-22

Family

ID=4170706

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/FR2002/004134 WO2003045998A2 (fr) 2001-11-30 2002-12-02 Polynucléotide et protéine impliqués dans la synaptogenèse, variants de ceux-ci, et leurs applications thérapeutiques et diagnostiques.

Country Status (5)

Country Link
US (3) US7384740B2 (fr)
EP (1) EP1453861A2 (fr)
AU (1) AU2002364808A1 (fr)
CA (1) CA2364106A1 (fr)
WO (1) WO2003045998A2 (fr)

Families Citing this family (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2004267247B2 (en) * 2003-08-22 2010-02-18 Integragen Human autism susceptibility gene and uses thereof
CA2523399A1 (fr) * 2005-10-14 2007-04-14 Institut Pasteur Variations genetiques liees a des troubles psychiatriques
AU2006310882A1 (en) * 2005-11-07 2007-05-10 Copenhagen University Neurotrophin-derived peptide sequences
PT2172211E (pt) * 2008-10-01 2015-03-09 Immatics Biotechnologies Gmbh Composição de peptídeos associados a tumores e vacina anti -cancro relacionada para o tratamento de glioblastoma (gbm) e outros tipos de câncer
AU2016204708B2 (en) * 2008-10-01 2018-02-22 Immatics Biotechnologies Gmbh Novel immunotherapy against several tumors including neuronal and brain tumors
AU2014271235B2 (en) * 2008-10-01 2017-03-02 Immatics Biotechnologies Gmbh Novel immunotherapy against several tumors including neuronal and brain tumors
US20130123124A1 (en) * 2010-03-12 2013-05-16 Children's Medical Center Corporation Methods and compositions for characterizing autism spectrum disorder based on gene expression patterns
US20130058871A1 (en) * 2011-07-28 2013-03-07 Howard Hughes Medical Institute Method and system for mapping synaptic connectivity using light microscopy
WO2018106982A1 (fr) * 2016-12-09 2018-06-14 The Regents Of The University Of California Compositions et méthodes pour améliorer la maturation, la santé et la fonction de cellules bêta

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1999055915A2 (fr) * 1998-04-29 1999-11-04 The Government Of The United States Of America As Represented By The Secretary, Department Of Health And Human Services IDENTIFICATION DE POLYMORPHISMES DANS LA REGION PCTG4 DE Xq13

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1999055915A2 (fr) * 1998-04-29 1999-11-04 The Government Of The United States Of America As Represented By The Secretary, Department Of Health And Human Services IDENTIFICATION DE POLYMORPHISMES DANS LA REGION PCTG4 DE Xq13

Also Published As

Publication number Publication date
US20090202992A1 (en) 2009-08-13
US7384740B2 (en) 2008-06-10
EP1453861A2 (fr) 2004-09-08
US7906640B2 (en) 2011-03-15
US20050118588A1 (en) 2005-06-02
CA2364106A1 (fr) 2003-05-30
WO2003045998A2 (fr) 2003-06-05
AU2002364808A8 (en) 2003-06-10
US20090117554A1 (en) 2009-05-07
AU2002364808A1 (en) 2003-06-10

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