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Literature DB >> 18790661

Genetic variation of Omi/HtrA2 and Parkinson's disease.

Owen A Ross¹, Alexandra I Soto, Carles Vilariño-Güell, Michael G Heckman, Nancy N Diehl, Mary M Hulihan, Jan O Aasly, Sigrid Sando, J Mark Gibson, Timothy Lynch, Anna Krygowska-Wajs, Grzegorz Opala, Maria Barcikowska, Krzysztof Czyzewski, Ryan J Uitti, Zbigniew K Wszolek, Matthew J Farrer.

Abstract

Variants in the Omi/HtrA2 gene have been nominated as a cause of Parkinson's disease. This sequencing study of Omi/HtrA2 in 95 probands with apparent autosomal dominant inheritance of Parkinson's disease did not identify any pathogenic mutations. In addition, there was no association between common variations in the Omi/HtrA2 gene and susceptibility to Parkinson's disease in any of our four patient-control series (n=2373). Taken together our results do not support a role for Omi/HtrA2 variants in the pathogenesis of Parkinson's disease.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2008 PMID： 18790661 PMCID： PMC2614082 DOI： 10.1016/j.parkreldis.2008.08.003

Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN： 1353-8020 Impact factor: 4.891

10 in total

1. Score tests for association between traits and haplotypes when linkage phase is ambiguous.

Authors: Daniel J Schaid; Charles M Rowland; David E Tines; Robert M Jacobson; Gregory A Poland
Journal: Am J Hum Genet Date: 2001-12-27 Impact factor: 11.025

2. Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.

Authors: Javier Simón-Sánchez; Andrew B Singleton
Journal: Hum Mol Genet Date: 2008-03-25 Impact factor: 6.150

3. Neuroprotective role of the Reaper-related serine protease HtrA2/Omi revealed by targeted deletion in mice.

Authors: L Miguel Martins; Alastair Morrison; Kristina Klupsch; Valentina Fedele; Nicoleta Moisoi; Peter Teismann; Alejandro Abuin; Evelyn Grau; Martin Geppert; George P Livi; Caretha L Creasy; Alison Martin; Iain Hargreaves; Simon J Heales; Hitoshi Okada; Sebastian Brandner; Jörg B Schulz; Tak Mak; Julian Downward
Journal: Mol Cell Biol Date: 2004-11 Impact factor: 4.272

4. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.

Authors: Corinne Lautier; Stefano Goldwurm; Alexandra Dürr; Barbara Giovannone; William G Tsiaras; Gianni Pezzoli; Alexis Brice; Robert J Smith
Journal: Am J Hum Genet Date: 2008-03-20 Impact factor: 11.025

5. Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease.

Authors: Veerle Bogaerts; Karen Nuytemans; Joke Reumers; Philippe Pals; Sebastiaan Engelborghs; Barbara Pickut; Ellen Corsmit; Karin Peeters; Joost Schymkowitz; Peter Paul De Deyn; Patrick Cras; Frederic Rousseau; Jessie Theuns; Christine Van Broeckhoven
Journal: Hum Mutat Date: 2008-06 Impact factor: 4.878

Review 6. Diagnostic criteria for Parkinson disease.

Authors: D J Gelb; E Oliver; S Gilman
Journal: Arch Neurol Date: 1999-01

7. The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1.

Authors: Hélène Plun-Favreau; Kristina Klupsch; Nicoleta Moisoi; Sonia Gandhi; Svend Kjaer; David Frith; Kirsten Harvey; Emma Deas; Robert J Harvey; Neil McDonald; Nicholas W Wood; L Miguel Martins; Julian Downward
Journal: Nat Cell Biol Date: 2007-09-30 Impact factor: 28.824

8. Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice.

Authors: Julie M Jones; Pinaki Datta; Srinivasa M Srinivasula; Weizhen Ji; Sanjeev Gupta; ZhiJia Zhang; Erika Davies; György Hajnóczky; Thomas L Saunders; Margaret L Van Keuren; Teresa Fernandes-Alnemri; Miriam H Meisler; Emad S Alnemri
Journal: Nature Date: 2003-10-08 Impact factor: 49.962

Review 9. Expanding insights of mitochondrial dysfunction in Parkinson's disease.

Authors: Patrick M Abou-Sleiman; Miratul M K Muqit; Nicholas W Wood
Journal: Nat Rev Neurosci Date: 2006-03 Impact factor: 34.870

10. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.

Authors: Karsten M Strauss; L Miguel Martins; Helene Plun-Favreau; Frank P Marx; Sabine Kautzmann; Daniela Berg; Thomas Gasser; Zbginiew Wszolek; Thomas Müller; Antje Bornemann; Hartwig Wolburg; Julian Downward; Olaf Riess; Jörg B Schulz; Rejko Krüger
Journal: Hum Mol Genet Date: 2005-06-16 Impact factor: 6.150

10 in total

24 in total

1. HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia.

Authors: Charalampos Tzoulis; Tetyana Zayats; Per Morten Knappskog; Bernd Müller; Jan Petter Larsen; Ole-Bjørn Tysnes; Laurence A Bindoff; Stefan Johansson; Kristoffer Haugarvoll
Journal: Proc Natl Acad Sci U S A Date: 2015-03-30 Impact factor: 11.205

2. TARDBP mutations in Parkinson's disease.

Authors: Sruti Rayaprolu; Shinsuke Fujioka; Sharleen Traynor; Alexandra I Soto-Ortolaza; Leonard Petrucelli; Dennis W Dickson; Rosa Rademakers; Kevin B Boylan; Neill R Graff-Radford; Ryan J Uitti; Zbigniew K Wszolek; Owen A Ross
Journal: Parkinsonism Relat Disord Date: 2012-12-08 Impact factor: 4.891

Review 3. Genetics of Parkinson disease and essential tremor.

Authors: Christian Wider; Owen A Ross; Zbigniew K Wszolek
Journal: Curr Opin Neurol Date: 2010-08 Impact factor: 5.710

4. HTRA2 variations in Taiwanese Parkinson's disease.

Authors: Chiung-Mei Chen; Chun-Hsien Wu; Chin-Hsia Hsieh; Chih-Hsin Lin; I-Cheng Chen; Yi-Chun Chen; Li-Ching Lee; Chi-Mei Lee; Yung-Che Tseng; Guey-Jen Lee-Chen; Yih-Ru Wu
Journal: J Neural Transm (Vienna) Date: 2013-12-12 Impact factor: 3.575

Review 5. Drosophila as a model to study mitochondrial dysfunction in Parkinson's disease.

Authors: Ming Guo
Journal: Cold Spring Harb Perspect Med Date: 2012-11-01 Impact factor: 6.915

Review 6. Crosstalk between Nrf2 signaling and mitochondrial function in Parkinson's disease.

Authors: Navneet Ammal Kaidery; Manuj Ahuja; Bobby Thomas
Journal: Mol Cell Neurosci Date: 2019-10-20 Impact factor: 4.314

7. Altered enzymatic activity and allele frequency of OMI/HTRA2 in Alzheimer's disease.

Authors: Marie Westerlund; Homira Behbahani; Sandra Gellhaar; Charlotte Forsell; Andrea Carmine Belin; Anna Anvret; Anna Zettergren; Hans Nissbrandt; Charlotta Lind; Olof Sydow; Caroline Graff; Lars Olson; Maria Ankarcrona; Dagmar Galter
Journal: FASEB J Date: 2010-12-16 Impact factor: 5.191