Literature DB >> 24557499

VPS35 Parkinson's disease phenotype resembles the sporadic disease.

Walter Struhal1, Stefan Presslauer, Sabine Spielberger, Alexander Zimprich, Eduard Auff, Thomas Bruecke, Werner Poewe, Gerhard Ransmayr.   

Abstract

Recently a new autosomal dominant Parkinson's disease mutation (p.Asp620Asn) in the VPS35 gene was discovered. The clinical features of 14 PD patients with this mutation from three Austrian families were evaluated. Age at disease-onset appears lower and depression was more common in Austrian patients compared to sporadic PD patients. However, we were unable to identify a specific clinical maker of VPS35 patients, who otherwise resemble sporadic PD patients.

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Year:  2014        PMID： 24557499     DOI： 10.1007/s00702-014-1179-1

Source DB:  PubMed          Journal:  J Neural Transm (Vienna)        ISSN： 0300-9564            Impact factor:   3.575


  11 in total

1.  Identification of VPS35 mutations replicated in French families with Parkinson disease.

Authors:  S Lesage; C Condroyer; S Klebe; A Honoré; F Tison; C Brefel-Courbon; A Dürr; A Brice
Journal:  Neurology       Date:  2012-04-18       Impact factor: 9.910

Review 2.  Stress, depression and Parkinson's disease.

Authors:  Ann M Hemmerle; James P Herman; Kim B Seroogy
Journal:  Exp Neurol       Date:  2011-10-06       Impact factor: 5.330

3.  Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family.

Authors:  C Wider; L Skipper; A Solida; L Brown; M Farrer; D Dickson; Z K Wszolek; F J G Vingerhoets
Journal:  Parkinsonism Relat Disord       Date:  2008-03-14       Impact factor: 4.891

4.  Frequency of the D620N mutation in VPS35 in Parkinson disease.

Authors:  Kishore R Kumar; Anne Weissbach; Marcus Heldmann; Meike Kasten; Sinem Tunc; Carolyn M Sue; Marina Svetel; Vladimir S Kostić; Juan Segura-Aguilar; Alfredo Ramirez; David K Simon; Peter Vieregge; Thomas F Münte; Johann Hagenah; Christine Klein; Katja Lohmann
Journal:  Arch Neurol       Date:  2012-10

5.  A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.

Authors:  Alexander Zimprich; Anna Benet-Pagès; Walter Struhal; Elisabeth Graf; Sebastian H Eck; Marc N Offman; Dietrich Haubenberger; Sabine Spielberger; Eva C Schulte; Peter Lichtner; Shaila C Rossle; Norman Klopp; Elisabeth Wolf; Klaus Seppi; Walter Pirker; Stefan Presslauer; Brit Mollenhauer; Regina Katzenschlager; Thomas Foki; Christoph Hotzy; Eva Reinthaler; Ashot Harutyunyan; Robert Kralovics; Annette Peters; Fritz Zimprich; Thomas Brücke; Werner Poewe; Eduard Auff; Claudia Trenkwalder; Burkhard Rost; Gerhard Ransmayr; Juliane Winkelmann; Thomas Meitinger; Tim M Strom
Journal:  Am J Hum Genet       Date:  2011-07-15       Impact factor: 11.025

6.  The FAB: a Frontal Assessment Battery at bedside.

Authors:  B Dubois; A Slachevsky; I Litvan; B Pillon
Journal:  Neurology       Date:  2000-12-12       Impact factor: 9.910

Review 7.  A systematic review of prevalence studies of depression in Parkinson's disease.

Authors:  Jennifer S A M Reijnders; Uwe Ehrt; Wim E J Weber; Dag Aarsland; Albert F G Leentjens
Journal:  Mov Disord       Date:  2008-01-30       Impact factor: 10.338

8.  VPS35 mutations in Parkinson disease.

Authors:  Carles Vilariño-Güell; Christian Wider; Owen A Ross; Justus C Dachsel; Jennifer M Kachergus; Sarah J Lincoln; Alexandra I Soto-Ortolaza; Stephanie A Cobb; Greggory J Wilhoite; Justin A Bacon; Bahareh Behrouz; Heather L Melrose; Emna Hentati; Andreas Puschmann; Daniel M Evans; Elizabeth Conibear; Wyeth W Wasserman; Jan O Aasly; Pierre R Burkhard; Ruth Djaldetti; Joseph Ghika; Faycal Hentati; Anna Krygowska-Wajs; Tim Lynch; Eldad Melamed; Alex Rajput; Ali H Rajput; Alessandra Solida; Ruey-Meei Wu; Ryan J Uitti; Zbigniew K Wszolek; François Vingerhoets; Matthew J Farrer
Journal:  Am J Hum Genet       Date:  2011-07-15       Impact factor: 11.025

9.  Screening for VPS35 mutations in Parkinson's disease.

Authors:  Una-Marie Sheerin; Gavin Charlesworth; Jose Bras; Rita Guerreiro; Kailash Bhatia; Thomas Foltynie; Patricia Limousin; Laura Silveira-Moriyama; Andrew Lees; Nicholas Wood
Journal:  Neurobiol Aging       Date:  2011-12-07       Impact factor: 4.673

10.  A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Authors:  Manu Sharma; John P A Ioannidis; Jan O Aasly; Grazia Annesi; Alexis Brice; Lars Bertram; Maria Bozi; Maria Barcikowska; David Crosiers; Carl E Clarke; Maurizio F Facheris; Matthew Farrer; Gaetan Garraux; Suzana Gispert; Georg Auburger; Carles Vilariño-Güell; Georgios M Hadjigeorgiou; Andrew A Hicks; Nobutaka Hattori; Beom S Jeon; Zygmunt Jamrozik; Anna Krygowska-Wajs; Suzanne Lesage; Christina M Lill; Juei-Jueng Lin; Timothy Lynch; Peter Lichtner; Anthony E Lang; Cecile Libioulle; Miho Murata; Vincent Mok; Barbara Jasinska-Myga; George D Mellick; Karen E Morrison; Thomas Meitnger; Alexander Zimprich; Grzegorz Opala; Peter P Pramstaller; Irene Pichler; Sung Sup Park; Aldo Quattrone; Ekaterina Rogaeva; Owen A Ross; Leonidas Stefanis; Joanne D Stockton; Wataru Satake; Peter A Silburn; Tim M Strom; Jessie Theuns; Eng-King Tan; Tatsushi Toda; Hiroyuki Tomiyama; Ryan J Uitti; Christine Van Broeckhoven; Karin Wirdefeldt; Zbigniew Wszolek; Georgia Xiromerisiou; Harumi S Yomono; Kuo-Chu Yueh; Yi Zhao; Thomas Gasser; Demetrius Maraganore; Rejko Krüger
Journal:  J Med Genet       Date:  2012-11       Impact factor: 6.318
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  18 in total

1.  Control of mitochondrial homeostasis by endocytic regulatory proteins.

Authors:  Trey Farmer; James B Reinecke; Shuwei Xie; Kriti Bahl; Naava Naslavsky; Steve Caplan
Journal:  J Cell Sci       Date:  2017-06-08       Impact factor: 5.285

Review 2.  Understanding the contributions of VPS35 and the retromer in neurodegenerative disease.

Authors:  Erin T Williams; Xi Chen; P Anthony Otero; Darren J Moore
Journal:  Neurobiol Dis       Date:  2022-05-16       Impact factor: 7.046

3.  Mechanisms of VPS35-Mediated Neurodegeneration in Parkinson's Disease.

Authors:  Dorian Sargent; Darren J Moore
Journal:  Int Rev Mov Disord       Date:  2021-09-30

Review 4.  Endosomal sorting pathways in the pathogenesis of Parkinson's disease.

Authors:  Lindsey A Cunningham; Darren J Moore
Journal:  Prog Brain Res       Date:  2020-03-16       Impact factor: 2.453

5.  Familial atypical parkinsonism with rare variant in VPS35 and FBXO7 genes: A case report.

Authors:  Tereza Bartonikova; Katerina Mensikova; Lenka Mikulicova; Radek Vodicka; Radek Vrtel; Marek Godava; Miroslav Vastik; Michaela Kaiserova; Pavel Otruba; Iva Dolinova; Martin Nevrly; Petr Kanovsky
Journal:  Medicine (Baltimore)       Date:  2016-11       Impact factor: 1.889

Review 6.  VPS35, the Retromer Complex and Parkinson's Disease.

Authors:  Erin T Williams; Xi Chen; Darren J Moore
Journal:  J Parkinsons Dis       Date:  2017       Impact factor: 5.568

7.  Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers.

Authors:  Ye Zhao; Gayathri Perera; Junko Takahashi-Fujigasaki; Deborah C Mash; Jean Paul G Vonsattel; Akiko Uchino; Kazuko Hasegawa; R Jeremy Nichols; Janice L Holton; Shigeo Murayama; Nicolas Dzamko; Glenda M Halliday
Journal:  Brain       Date:  2018-02-01       Impact factor: 13.501

Review 8.  Epigenetics in Lewy Body Diseases: Impact on Gene Expression, Utility as a Biomarker, and Possibilities for Therapy.

Authors:  Aintzane Urbizu; Katrin Beyer
Journal:  Int J Mol Sci       Date:  2020-07-02       Impact factor: 5.923

9.  Mannose 6-Phosphate Receptor Is Reduced in -Synuclein Overexpressing Models of Parkinsons Disease.

Authors:  Carmela Matrone; Nicolas Dzamko; Peder Madsen; Mette Nyegaard; Regina Pohlmann; Rikke V Søndergaard; Louise B Lassen; Thomas L Andresen; Glenda M Halliday; Poul Henning Jensen; Morten S Nielsen
Journal:  PLoS One       Date:  2016-08-10       Impact factor: 3.240

Review 10.  Identification of VPS35 p.D620N mutation-related Parkinson's disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature review.

Authors:  Ying-Fa Chen; Yung-Yee Chang; Min-Yu Lan; Pei-Lung Chen; Chin-Hsien Lin
Journal:  BMC Neurol       Date:  2017-10-06       Impact factor: 2.474
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