KASPP (LRRK2) gene, its production and use for the detection...

Details KASPP (LRRK2) gene, its production and use for the detection... KASPP (LRRK2) gene, its production and use for the detection...

2005-09-27

2011-10-04

Ulm, John (Department: 1649)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C435S252300, C435S320100, C536S023500, C536S024310

Reexamination Certificate

active

08029986

ABSTRACT:
The present invention refers to a newly discovered gene named KASPP for Kinase Associated with Parkinsonism with Pleiomorphic Pathology or alternatively named LRRK2 for Leucine-Rich Repeat Kinase 2, its production, biochemical characterization and use for the detection and treatment of neurodegenerative disorders, such as Parkinson disease (PD) including, without limitation, sporadic PD, Alzheimer disease (AD), amyotrophic lateral sclerosis (ALS), and other synucleinopathies and/or tauopathy as well as several polymorphisms and mutations in the KASPP/LRRK2 gene segregated with PD.

REFERENCES:
patent: 5744305 (1998-04-01), Fodor et al.
patent: 6174670 (2001-01-01), Wittwer et al.
patent: WO 92/02638 (1992-02-01), None
patent: WO 95/02051 (1995-01-01), None
patent: WO 03/012065 (2003-02-01), None
patent: WO 03/101283 (2003-12-01), None
patent: WO 2004/023973 (2004-03-01), None
Berg et al., “Iron Accumulation in the Substantia Nigra in Rats Visualized by Ultrasound,”Ultrasound Med. Biol, 25:901-904, 1999.
Berg et al., “Echogenicity of the Substantia Nigra in Parkinson's Disease and Its Relation to Clinical Findings,”J Neurol, 248:684-689, 2001.
Bonifati et al., “Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism,”Science, 299, 256-259, 2003.
Bosgraaf et al., “Roc, a Ras/GTPase Domain in Complex Proteins,”Biochim. Biophys. Acta., 1643, 5-10, 2003.
Chalandon & Schwaller, “Targeting Mutated Protein Tyrosine Kinases and their Signaling Pathways in Hematologic Malignancies,”The Hematology Journal90, 949-968, 2005.
Daum et al., “Riechprüfung mit “Sniffin' Sticks” zur Klinischen Diagnostik des Morbus Parkinson,”Nervenarzt, 71:643-650, 2000 (No Translation).
Dibb et al., “Switching on Kinases: Oncogenic Activation of BRAF and the PDGFR Family,”Nature Reviews, 4, 718-727.
Ghetti et al., “Frontotemporal Demitia and Parkinsonism Linked to Chromosome 17 Associated with Tau Gene Mutations (FTDP17T)”Chap. 3 Tauoptathies: FTDP-017pp. 86-102, 2003.
Di Fonzo et al., “A Frequent LRRK2 Gene Mutation Associated with Autosomal Dominant Parkinson's Disease,”Lancet, 365:412-415, 2005,
Duda et al., “Concurrence of α-Synuclein and Tau Brain Pathology in the Contursi Kindred,”Acta. Neuropathol. Berl., 104, 7-11, 2002.
Elbaz et al., “Familial Aggregation of Parkinson's Disease: A Population-Based Case-Control Study in Europe,”Neurology, 52:1876-1882, 1999.
Fujiki et al., “Isolation of Intracellular Membranes by Means of Sodium Carbonate Treatment: Application to Endoplasmic Reticulum,”J. Cell Biol., 93, 97-102, 1982.
Funayama et al., “A New Locus for Parkinson's Disease (PARK8) Maps to Chromosome 12p11.2-q13.1,”Ann. Neural., 51, 296-301, 2002.
Funayama et al., “AnLRRK2Mutation as a Cause for the Parkinsonism in the OriginalPARK8Family,”Ann. Neurol., 57:918-921, 2005.
Garini, Y. et al., “From Micro to Nano: Recent Advances in High-Resolution Microscopy,”Curr. Opin. Biotechnol., 16, 3-12, 2005.
Gasser et al., “A Susceptibility Locus for Parkinson's Disease Maps to Chromosome 2p13,”Nat. Genet., 18, 262-265, 1998.
Gilks et al., “A CommonLRRK2Mutation in Idiopathic Parkinson's Disease,”Lancet, 365:415-416, 2005.
Gotz, “Formation of Neurofibrillary Tangles in P301L Tau Transgenic Mice Induced by Aβ42 Fibrils,”Science, 293, 1491-1495, 2001.
Hernandez et al., “Clinical and Positron Emission Tomography of Parkinson's Disease Caused byLRRK2,” Ann. Neurol., 57:453-456, 2005.
Hicks et al., “A Susceptibility Gene for Late-Onset Idiopathic Parkinson's Disease,”Ann. Neurol., 52, 549-555, 2002.
Hubbard et al., “Protein Tyrosine Kinase Structure and Function,”Annu. Rev. Biochem., 69, 373-398, 2000.
Hughes et al., “Accuracy of Clinical Diagnosis of Idiopathic Parkinson's Disease: a Clinico-Pathological Study of 100 Cases,” J. Neurol. Neurosurg. Psychiatry, 55:181-184, 1992.
Kitada et al., “Mutations in theParkinGene Cause Autosomal Recessive Juvenile Parkinsonism,”Nature, 392, 605-608, 1998.
Kobe and Kajava, “The Leucine-Rich Repeat as a Protein Recognition Motif,”Curr. Opin. Struct. Biol11, 725-732, 2001.
Kotzbauer et al., “Fibrillization of α-Synuclein and Tau in Familial Parkinson's Disease Caused by the A53T α-Synuclein Mutation,”Exp. Neurol., 187, 279-288, 2004.
Kumar et al., “Sleep Disorders in Parkinson's Disease,”Movement Disorders17: 775-781, 2002.
Lees et al., “The Nighttime Problems of Parkinson's Disease,”Clinical Neuro., 11: 512-519, 1988.
Ludwig, E. et al., “Diminished Rev-Mediated Stimulation of Human Immunodeficiency Virus Type 1 Protein Synthesis is a Hallmark of Human Astrocytes,”J. Virol., 73, 8279-8289, 1999.
Mata et al., “LRRK2R1441G in Spanish Patients with Parkinson's Disease,”Neuroscience Letters382:309-311, 2005.
Neuhoff, V. et al., “Improved Staining of Proteins in Polyacrylamide Gels Including Isoelectric Focusing Gels with Clear Background at Nanogram Sensitivity Using Coomassie Brilliant Blue G-250 and R-250,”Electrophoresis, 9, 255-262, 1988.
Paisan-Ruiz et al., “Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease,”Neuron, 44, 595-600, 2004.
Paisan-Ruiz et al., “Familial Parkinson's disease: Clinical and Genetic Analysis of Four Basque Families,”Ann. Neurol., 57:365-372, 2005.
Pankratz et al., “Significant Linkage of Parkinson Disease to Chromosome 2q36-37,”Am. J. Hum. Genet., 72, 1053-1057, 2003.
Polymeropopoulos et al., “Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease.”Sciience, 276:2045-2047, 1997.
Ridley, “Rho Family Proteins: Coordinating Cell Responses,”Trends Cell. Biol., 11, 471-476, 2001.
Ross & Farrer, “Pathophysiology, Pleotrophy, and Paradigm Shifts: Genetic Lessons from Parkinson's Disease,”Biochem. Soc. Trans., 33, 586-590, 2005.
Scott et al., “Fine Mapping of the Chromosome 12 Late-Onset Alzheimer Disease Locus: Potenia Genetic and Phenotypic Heterogeneity,”Am. J. Hum. Genet., 66, 922-932, 2000.
Shevchenko, A. et al., “ Mass Spectrometric Sequencing of Proteins from Silver-Stained Polyacrylamide Gels,”Anal. Chem. 68, 850-858, 1996.
Smith et al., “The WD Repeat: A Common Architecture for Diverse Functions,”TIBS, 24, 181-185, 1999.
Tang et al., “Chip-Based Genotyping by Mass Spectrometry,”Proc. Natl. Acad. Sci USA96, 10016-10020, 1999.
Toft et al., “LRRK2 Mutations and Parkinsonism,”Lancet, 365:1229-1230, 2005.
Valente et al., “Hereditary Early-Onset Parkinson's Disease Caused by Mutations inPINK1,” Science, 304, 1158-1160, 2004.
Walter al., “Substantia Nigra Echogenicity is Normal n Non-Extrapyramidal Cerebral Disorders but Increased in Parkinson's Disease,”J. Neural Transm., 109:191-196, 2002.
Wszolek et al., “Autosomal Dominant Parkinsonism Associated with Variable Synuclein and Tau Pathology,”Neurology, 62, 16-19-1622, 2004.
Zimprich et al., “The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval,”Am. J. Hum. Genet.,74, 11-19, 2004.
Zimprich et al., “Mutations inLRRK2Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology,”Neuron, 44, 601-607, 2004.
International Preliminary Report (PCT/EP2005/010428) mailed Jan. 22, 2007.
Written Opinion of the Preliminary Examining Authority (PCT/EP2005/010428) mailed Nov. 22, 2006.
International Search Report (PCT/EP2005/010428) mailed Jun. 16, 2006.
Invitation to Pay Additional Fees from the International Searching Authority (PCT/EP2005/010428) mailed Apr. 10, 2

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