Literature DB >> 10563640

Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease.

D M Maraganore1, M J Farrer, J A Hardy, S J Lincoln, S K McDonnell, W A Rocca.   

Abstract

We investigated the association of PD with a recently reported I93M mutation of the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene, and with a new and common polymorphic variant S18Y of the same gene. We did not identify the I93M mutation in any of 139 unrelated PD cases or 113 controls. However, S18Y polymorphism carriers had significantly lower risk of PD (odds ratio = 0.53; p = 0.03), and the risk reduction was greater for younger onset cases.

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Year:  1999        PMID: 10563640     DOI: 10.1212/wnl.53.8.1858

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  42 in total

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2.  Cyclopentenone prostaglandin-induced unfolding and aggregation of the Parkinson disease-associated UCH-L1.

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Review 3.  Neurodegenerative disorders: Parkinson's disease and Huntington's disease.

Authors:  S M Hague; S Klaffke; O Bandmann
Journal:  J Neurol Neurosurg Psychiatry       Date:  2005-08       Impact factor: 10.154

Review 4.  The genetic and molecular bases of monogenic disorders affecting proteolytic systems.

Authors:  I Richard
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5.  Structural basis for conformational plasticity of the Parkinson's disease-associated ubiquitin hydrolase UCH-L1.

Authors:  Chittaranjan Das; Quyen Q Hoang; Cheryl A Kreinbring; Sarah J Luchansky; Robin K Meray; Soumya S Ray; Peter T Lansbury; Dagmar Ringe; Gregory A Petsko
Journal:  Proc Natl Acad Sci U S A       Date:  2006-03-13       Impact factor: 11.205

6.  Membrane-associated farnesylated UCH-L1 promotes alpha-synuclein neurotoxicity and is a therapeutic target for Parkinson's disease.

Authors:  Zhihua Liu; Robin K Meray; Tom N Grammatopoulos; Ross A Fredenburg; Mark R Cookson; Yichin Liu; Todd Logan; Peter T Lansbury
Journal:  Proc Natl Acad Sci U S A       Date:  2009-03-04       Impact factor: 11.205

7.  The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease.

Authors:  Silke Metzger; Peter Bauer; Juergen Tomiuk; Franco Laccone; Stefano Didonato; Cinzia Gellera; Paola Soliveri; Herwig W Lange; Helga Weirich-Schwaiger; Gregor K Wenning; Bela Melegh; Victoria Havasi; Lazlo Balikó; Stefan Wieczorek; Larissa Arning; Jacek Zaremba; Anna Sulek; Dorota Hoffman-Zacharska; A Nazli Basak; Nagehan Ersoy; Jana Zidovska; Vera Kebrdlova; Massimo Pandolfo; Pascale Ribaï; Ludovit Kadasi; Marta Kvasnicova; Bernhard H F Weber; Friedmar Kreuz; Matthias Dose; Manfred Stuhrmann; Olaf Riess
Journal:  Neurogenetics       Date:  2005-12-21       Impact factor: 2.660

8.  Porcine UCHL1: genomic organization, chromosome localization and expression analysis.

Authors:  Knud Larsen; Lone Bruhn Madsen; Christian Bendixen
Journal:  Mol Biol Rep       Date:  2011-05-13       Impact factor: 2.316

Review 9.  The genetics of Parkinson's disease.

Authors:  Kah Leong Lim; Valina L Dawson; Ted M Dawson
Journal:  Curr Neurol Neurosci Rep       Date:  2002-09       Impact factor: 5.081

Review 10.  Association between the ubiquitin carboxyl-terminal esterase L1 gene (UCHL1) S18Y variant and Parkinson's Disease: a HuGE review and meta-analysis.

Authors:  Margaret Ragland; Carolyn Hutter; Cyrus Zabetian; Karen Edwards
Journal:  Am J Epidemiol       Date:  2009-10-28       Impact factor: 4.897

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