EP 1709202 A1 20061011 - A141S AND G399S MUTATION IN THE OMI/HTRA2 PROTEIN IN PARKINSON'S DISEASE
Title (en)
A141S AND G399S MUTATION IN THE OMI/HTRA2 PROTEIN IN PARKINSON'S DISEASE
Title (de)
A141S- UND G399S-MUTATION IM OMI/HTRA2-PROTEIN BEI MORBUS PARKINSON
Title (fr)
MUTATION EN A141S ET G399S DANS LA PROTEINE OMI/HTRA2 DANS LA MALADIE DE PARKINSON
Publication
Application
Priority
- EP 2005000503 W 20050120
- DE 102004004924 A 20040127
Abstract (en)
[origin: WO2005071107A1] The invention relates to a method for the diagnosis of Parkinson's disease in a human being, to nucleic acid molecules used in said method, to the uses thereof in order to detect a nucleic acid molecule coding for human Omi/HtrA2 protein and/or for amplifying the human Omi/HtrA2 gene; to the use of a nucleic acid molecule which codes Omi/HtrA2 protein or sections thereof which is genetically modified in relation to the wild type, and/or one such protein and/or sections thereof for the diagnosis of Parkinson's disease and/or predisposition thereof; a nucleic acid molecule which codes for a human Omi/HtrA2 protein which is genetically modified in relation to the wild type on the 141 and/or 399 amino acid position, in addition to corresponding sections thereof; a host, preferably a transgenic non-human mammal, wherein one such nucleic acid molecule is introduced; a (poly)peptide which is coded by one such nucleic acid molecule; a method which is used to detect substances binding Omi/HtrA2 protein which is genetically modified in relation to the wild type; a substance discovered by means of said method in addition to, preferably, a pharmaceutical composition comprising one such substance. The invention further relates to a kit comprising at least one of the above-mentioned nucleic-acid molecules.
IPC 8 full level
C12Q 1/68 (2006.01); A01K 67/027 (2006.01); C12N 9/64 (2006.01)
CPC (source: EP US)
C12N 9/6424 (2013.01 - EP US); C12Q 1/6883 (2013.01 - EP US); A01K 2217/05 (2013.01 - EP US); C12Q 2600/136 (2013.01 - EP US); C12Q 2600/156 (2013.01 - EP US)
Citation (search report)
See references of WO 2005071107A1
Designated contracting state (EPC)
AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HU IE IS IT LI LT LU MC NL PL PT RO SE SI SK TR
DOCDB simple family (publication)
WO 2005071107 A1 20050804; DE 102004004924 A1 20050818; DE 102004004924 B4 20070426; EP 1709202 A1 20061011; US 2007031872 A1 20070208
DOCDB simple family (application)
EP 2005000503 W 20050120; DE 102004004924 A 20040127; EP 05701053 A 20050120; US 49336906 A 20060725