Title:
USES OF HUMAN AUTISM SUSCEPTIBILITY GENE ENCODING A KINASE
Document Type and Number:
WIPO Patent Application WO2006087634
Kind Code:
A3
Abstract:
The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the MARK1 gene on chromosome 1 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the MARKI gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of Asperger syndrome, pervasive developmental disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases including schizophrenia.
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Inventors:
PHILIPPI ANNE (FR)
ROUSSEAU FRANCIS (FR)
ROSCHMANN ELKE (DE)
ROUSSEAU FRANCIS (FR)
ROSCHMANN ELKE (DE)
Application Number:
PCT/IB2006/000469
Publication Date:
November 02, 2006
Filing Date:
February 16, 2006
Export Citation:
Assignee:
INTEGRAGEN SA (FR)
PHILIPPI ANNE (FR)
ROUSSEAU FRANCIS (FR)
ROSCHMANN ELKE (DE)
PHILIPPI ANNE (FR)
ROUSSEAU FRANCIS (FR)
ROSCHMANN ELKE (DE)
International Classes:
C12Q1/68
Domestic Patent References:
| WO2005010174A2 | 2005-02-03 |
Other References:
THIES E ET AL: "P3-255 Mark/PAR1 kinase is a regulator of microtubule-dependent transport in axons by phosphorylating tau protein", NEUROBIOLOGY OF AGING, TARRYTOWN, NY, US, vol. 25, July 2004 (2004-07-01), pages S427, XP004626019, ISSN: 0197-4580
CHIN JOANNA Y ET AL: "Microtubule-affinity regulating kinase (MARK) is tightly associated with neurofibrillary tangles in Alzheimer brain: A fluorescence resonance energy transfer study", JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, vol. 59, no. 11, November 2000 (2000-11-01), pages 966 - 971, XP009071198, ISSN: 0022-3069
EKELUND J ET AL: "Chromosome 1 loci in Finnish schizophrenia families.", HUMAN MOLECULAR GENETICS. 15 JUL 2001, vol. 10, no. 15, 15 July 2001 (2001-07-15), pages 1611 - 1617, XP002395541, ISSN: 0964-6906
CHIN JOANNA Y ET AL: "Microtubule-affinity regulating kinase (MARK) is tightly associated with neurofibrillary tangles in Alzheimer brain: A fluorescence resonance energy transfer study", JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, vol. 59, no. 11, November 2000 (2000-11-01), pages 966 - 971, XP009071198, ISSN: 0022-3069
EKELUND J ET AL: "Chromosome 1 loci in Finnish schizophrenia families.", HUMAN MOLECULAR GENETICS. 15 JUL 2001, vol. 10, no. 15, 15 July 2001 (2001-07-15), pages 1611 - 1617, XP002395541, ISSN: 0964-6906
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