Literature DB >> 15895422

Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients.

Daniela Berg1, Marc Niwar, Sylvia Maass, Alexander Zimprich, J Carsten Möller, Ullrich Wuellner, Tanja Schmitz-Hübsch, Christine Klein, Eng-King Tan, Ludger Schöls, Laura Marsh, Ted M Dawson, Bernd Janetzky, Thomas Müller, Dirk Woitalla, Vladimir Kostic, Peter P Pramstaller, Wolfgang H Oertel, Peter Bauer, Rejko Krueger, Thomas Gasser, Olaf Riess.   

Abstract

Data on the frequency of alpha-synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G>A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the alpha-synuclein gene are rare and suggest that other factors contribute to alpha-synuclein aggregation in the majority of PD patients. (c) 2005 Movement Disorder Society.

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Year:  2005        PMID: 15895422     DOI: 10.1002/mds.20504

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  17 in total

Review 1.  The heterozygous A53T mutation in the alpha-synuclein gene in a Chinese Han patient with Parkinson disease: case report and literature review.

Authors:  Wei-Xi Xiong; Yi-Min Sun; Rong-Yuan Guan; Su-Shan Luo; Chen Chen; Yu An; Jian Wang; Jian-Jun Wu
Journal:  J Neurol       Date:  2016-07-08       Impact factor: 4.849

2.  Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease.

Authors:  T Franck; R Krueger; D Woitalla; T Müller; S Engelender; O Riess
Journal:  J Neural Transm (Vienna)       Date:  2006-06-06       Impact factor: 3.575

3.  A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.

Authors:  Andreas Puschmann; Owen A Ross; Carles Vilariño-Güell; Sarah J Lincoln; Jennifer M Kachergus; Stephanie A Cobb; Suzanne G Lindquist; Jørgen E Nielsen; Zbigniew K Wszolek; Matthew Farrer; Håkan Widner; Danielle van Westen; Douglas Hägerström; Katerina Markopoulou; Bruce A Chase; Karin Nilsson; Jan Reimer; Christer Nilsson
Journal:  Parkinsonism Relat Disord       Date:  2009-07-25       Impact factor: 4.891

4.  A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinson's disease patients.

Authors:  Claudia Wahl; Sabine Kautzmann; Guido Krebiehl; Karsten Strauss; Dirk Woitalla; Thomas Müller; Peter Bauer; Olaf Riess; Rejko Krüger
Journal:  J Neural Transm (Vienna)       Date:  2008-04-30       Impact factor: 3.575

Review 5.  Insights into the Molecular Mechanisms of Alzheimer's and Parkinson's Diseases with Molecular Simulations: Understanding the Roles of Artificial and Pathological Missense Mutations in Intrinsically Disordered Proteins Related to Pathology.

Authors:  Orkid Coskuner-Weber; Vladimir N Uversky
Journal:  Int J Mol Sci       Date:  2018-01-24       Impact factor: 5.923

Review 6.  Physiological phenotype and vulnerability in Parkinson's disease.

Authors:  D James Surmeier; Jaime N Guzman; Javier Sanchez; Paul T Schumacker
Journal:  Cold Spring Harb Perspect Med       Date:  2012-07       Impact factor: 6.915

Review 7.  Genes associated with Parkinson syndrome.

Authors:  Saskia Biskup; Manfred Gerlach; Andreas Kupsch; Heinz Reichmann; Peter Riederer; Peter Vieregge; Ullrich Wüllner; Thomas Gasser
Journal:  J Neurol       Date:  2008-09       Impact factor: 4.849

Review 8.  A53T in a parkinsonian family: a clinical update of the SNCA phenotypes.

Authors:  Nicola Tambasco; Pasquale Nigro; Michele Romoli; Paolo Prontera; Simone Simoni; Paolo Calabresi
Journal:  J Neural Transm (Vienna)       Date:  2016-06-01       Impact factor: 3.575

9.  Pathologic modifications of alpha-synuclein in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-treated squirrel monkeys.

Authors:  Alison L McCormack; Sally K Mak; Maryam Shenasa; William J Langston; Lysia S Forno; Donato A Di Monte
Journal:  J Neuropathol Exp Neurol       Date:  2008-08       Impact factor: 3.685

10.  Molecular and neurochemical mechanisms in PD pathogenesis.

Authors:  Irmgard Paris; Jorge Lozano; Carolina Perez-Pastene; Patricia Muñoz; Juan Segura-Aguilar
Journal:  Neurotox Res       Date:  2009-05-20       Impact factor: 3.911

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