Literature DB >> 23427326

A novel α-synuclein missense mutation in Parkinson disease.

Christos Proukakis1, Christopher G Dudzik, Timothy Brier, Donna S MacKay, J Mark Cooper, Glenn L Millhauser, Henry Houlden, Anthony H Schapira.   

Abstract

Alpha-synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date. We report a novel mutation (p.H50Q) in a pathologically proven case.

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Year:  2013        PMID： 23427326      PMCID： PMC3653201          DOI： 10.1212/WNL.0b013e31828727ba

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


  7 in total

1.  Coordination features and affinity of the Cu²+ site in the α-synuclein protein of Parkinson's disease.

Authors:  Christopher G Dudzik; Eric D Walter; Glenn L Millhauser
Journal:  Biochemistry       Date:  2011-02-14       Impact factor: 3.162

2.  Metal-triggered structural transformations, aggregation, and fibrillation of human alpha-synuclein. A possible molecular NK between Parkinson's disease and heavy metal exposure.

Authors:  V N Uversky; J Li; A L Fink
Journal:  J Biol Chem       Date:  2001-09-11       Impact factor: 5.157

3.  Copper binding regulates intracellular alpha-synuclein localisation, aggregation and toxicity.

Authors:  Xiaoyan Wang; Dima Moualla; Josephine A Wright; David R Brown
Journal:  J Neurochem       Date:  2010-02-05       Impact factor: 5.372

4.  Acute and chronic metal exposure impairs locomotion activity in Drosophila melanogaster: a model to study Parkinsonism.

Authors:  Leonardo Bonilla-Ramirez; Marlene Jimenez-Del-Rio; Carlos Velez-Pardo
Journal:  Biometals       Date:  2011-05-19       Impact factor: 2.949

5.  Raised cerebrospinal-fluid copper concentration in Parkinson's disease.

Authors:  H S Pall; A C Williams; D R Blake; J Lunec; J M Gutteridge; M Hall; A Taylor
Journal:  Lancet       Date:  1987-08-01       Impact factor: 79.321

6.  Copper (Cu2+) induces degeneration of dopaminergic neurons in the nigrostriatal system of rats.

Authors:  Wen-Ran Yu; Hong Jiang; Jun Wang; Jun-Xia Xie
Journal:  Neurosci Bull       Date:  2008-04       Impact factor: 5.203

7.  Mitochondrial function, GSH and iron in neurodegeneration and Lewy body diseases.

Authors:  M Gu; A D Owen; S E Toffa; J M Cooper; D T Dexter; P Jenner; C D Marsden; A H Schapira
Journal:  J Neurol Sci       Date:  1998-06-11       Impact factor: 3.181
  7 in total
  198 in total

Review 1.  Dynamic structural flexibility of α-synuclein.

Authors:  Danielle E Mor; Scott E Ugras; Malcolm J Daniels; Harry Ischiropoulos
Journal:  Neurobiol Dis       Date:  2015-12-31       Impact factor: 5.996

2.  Multisystem Lewy body disease and the other parkinsonian disorders.

Authors:  J William Langston; Birgitt Schüle; Linda Rees; R Jeremy Nichols; Carrolee Barlow
Journal:  Nat Genet       Date:  2015-12       Impact factor: 38.330

Review 3.  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

4.  Synuclein expression in the lizard Anolis carolinensis.

Authors:  Mattia Toni; Carla Cioni; Federica De Angelis; Maria Carmela Bonaccorsi di Patti
Journal:  J Comp Physiol A Neuroethol Sens Neural Behav Physiol       Date:  2016-07-08       Impact factor: 1.836

5.  Definition of a molecular pathway mediating α-synuclein neurotoxicity.

Authors:  Jacqueline Burré; Manu Sharma; Thomas C Südhof
Journal:  J Neurosci       Date:  2015-04-01       Impact factor: 6.167

Review 6.  The role of lipids in α-synuclein misfolding and neurotoxicity.

Authors:  Cathryn L Ugalde; Victoria A Lawson; David I Finkelstein; Andrew F Hill
Journal:  J Biol Chem       Date:  2019-05-07       Impact factor: 5.157

Review 7.  The physiological role of α-synuclein and its relationship to Parkinson's Disease.

Authors:  David Sulzer; Robert H Edwards
Journal:  J Neurochem       Date:  2019-07-28       Impact factor: 5.372

8.  Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.

Authors:  Cornelis Blauwendraat; Demis A Kia; Lasse Pihlstrøm; Ziv Gan-Or; Suzanne Lesage; J Raphael Gibbs; Jinhui Ding; Roy N Alcalay; Sharon Hassin-Baer; Alan M Pittman; Janet Brooks; Connor Edsall; Sun Ju Chung; Stefano Goldwurm; Mathias Toft; Claudia Schulte; Dena Hernandez; Andrew B Singleton; Mike A Nalls; Alexis Brice; Sonja W Scholz; Nicholas W Wood
Journal:  Neurobiol Aging       Date:  2017-12-20       Impact factor: 4.673

9.  Role of Parkinson's Disease-Linked Mutations and N-Terminal Acetylation on the Oligomerization of α-Synuclein Induced by 3,4-Dihydroxyphenylacetaldehyde.

Authors:  Vanderlei de Araújo Lima; Lucas Alex do Nascimento; David Eliezer; Cristian Follmer
Journal:  ACS Chem Neurosci       Date:  2018-11-05       Impact factor: 4.418

10.  The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity.

Authors:  Ossama Khalaf; Bruno Fauvet; Abid Oueslati; Igor Dikiy; Anne-Laure Mahul-Mellier; Francesco Simone Ruggeri; Martial K Mbefo; Filip Vercruysse; Giovanni Dietler; Seung-Jae Lee; David Eliezer; Hilal A Lashuel
Journal:  J Biol Chem       Date:  2014-06-16       Impact factor: 5.157
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