公开(公告)号：EP1802749B1

公开(公告)日：2012-08-22

申请号：EP05797320.8

申请日：2005-09-27

申请人： Helmholtz Zentrum München Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH) ,  Eberhard Karls Universität Tübingen ,  MAYO FOUNDATION FOR MEDICAL EDUCATION AND RESEARCH

发明人： MEITINGER, Thomas ,  STROM, Tim, Matthias ,  BISKUP, Saskia ,  UEFFING, Marius ,  KREMMER, Elisabeth ,  GLOECKNER, Christian, J. ,  GASSER, Thomas ,  LEITNER, Petra ,  ASMUS, Friedrich ,  PATENGE, Nadja ,  ZIMPRICH, Alexander ,  FARRER, Matthew, J. ,  KACHERGUS, Jennifer, M. ,  LINCOLN, Sara, J. ,  HULIHAN, Mary, M. ,  WSZOLEK, Zibigniew ,  UITTI, Ryan

IPC分类号： C12N9/12

CPC分类号： C12N9/1205

摘要： 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.

公开(公告)号：EP1635763B1

公开(公告)日：2012-08-08

申请号：EP04776396.6

申请日：2004-06-09

申请人： Alnylam Pharmaceuticals Inc. ,  MAYO FOUNDATION FOR MEDICAL EDUCATION AND RESEARCH

发明人： BUMCROT, David ,  FARRER, Matthew, J. ,  MARAGANORE, Demetrius, MD ,  VORNLOCHER, Hans-Peter

IPC分类号： C12N15/113

CPC分类号： C12N15/113 ,  C12N2310/14 ,  C12N2310/315 ,  C12N2310/321 ,  C12N2310/3517 ,  C12N2310/3521

摘要： Aspects featured in the invention relate to compositions and methods for inhibiting alpha-synuclein (SNCA) gene expression, such as for the treatment of neurodegenerative disorders. An anti- SNCA agent featured herein that targets the SNCA gene can have been modified to alter distribution in favor of neural cells.

公开(公告)号：EP1802749A2

公开(公告)日：2007-07-04

申请号：EP05797320.8

申请日：2005-09-27

申请人： GSF-FORSCHUNGSZENTRUM FÜR UMWELT UND GESUNDHEIT, GMBH ,  Eberhard Karls Universität Tübingen ,  Mayo Clinic

发明人： MEITINGER, Thomas ,  STROM, Tim, Matthias ,  BISKUP, Saskia ,  UEFFING, Marius ,  KREMMER, Elisabeth ,  GLOECKNER, Christian, J. ,  GASSER, Thomas ,  LEITNER, Petra ,  ASMUS, Friedrich ,  PATENGE, Nadja ,  ZIMPRICH, Alexander ,  FARRER, Matthew, J. ,  KACHERGUS, Jennifer, M. ,  LINCOLN, Sara, J. ,  HULIHAN, Mary, M. ,  WSZOLEK, Zibigniew ,  UITTI, Ryan

IPC分类号： C12N9/12

CPC分类号： C12N9/1205

摘要： 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.