Literature DB >> 24684791

Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease.

Barbara Shannon1, Alexandra Soto-Ortolaza1, Sruti Rayaprolu1, Heather D Cannon1, Catherine Labbé1, Bruno A Benitez2, Jiyoon Choi2, Timothy Lynch3, Magdalena Boczarska-Jedynak4, Grzegorz Opala4, Anna Krygowska-Wajs5, Maria Barcikowska6, Jay A Van Gerpen7, Ryan J Uitti7, Wolfdieter Springer8, Carlos Cruchaga2, Zbigniew K Wszolek7, Owen A Ross9.   

Abstract

We recently showed that mutation of the VPS35 gene can cause late-onset Parkinson's disease. In the present study we sequenced 702 affected subjects from the Mayo Clinic Parkinson's disease patient-control series for the VPS29 and VPS26A/B genes. We identified only 2 rare nonsynonymous variants in the VPS26A p.K93E and VPS29 p.N72H. The results show that mutations in the genes composing the retromer cargo recognition subunit are not a common cause of Parkinson's disease.
Copyright © 2014 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Genetics; Parkinson's disease and/or Parkinsonism; Retromer; VPS35

Mesh：

Substances：

Year:  2014        PMID： 24684791      PMCID： PMC4023811          DOI： 10.1016/j.neurobiolaging.2014.03.004

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN： 0197-4580            Impact factor:   4.673


  6 in total

Review 1.  Retrograde transport from endosomes to the trans-Golgi network.

Authors:  Juan S Bonifacino; Raul Rojas
Journal:  Nat Rev Mol Cell Biol       Date:  2006-08       Impact factor: 94.444

2.  Mutations in VPS26A are not a frequent cause of Parkinson's disease.

Authors:  Eva Koschmidder; Brit Mollenhauer; Meike Kasten; Christine Klein; Katja Lohmann
Journal:  Neurobiol Aging       Date:  2013-12-27       Impact factor: 4.673

3.  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

4.  RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk.

Authors:  David A MacLeod; Herve Rhinn; Tomoki Kuwahara; Ari Zolin; Gilbert Di Paolo; Brian D McCabe; Brian D MacCabe; Karen S Marder; Lawrence S Honig; Lorraine N Clark; Scott A Small; Asa Abeliovich
Journal:  Neuron       Date:  2013-02-06       Impact factor: 17.173

5.  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

6.  Pathogenic mutation in VPS35 impairs its protection against MPP(+) cytotoxicity.

Authors:  Fangfang Bi; Fang Li; Cao Huang; Hongxia Zhou
Journal:  Int J Biol Sci       Date:  2013-01-26       Impact factor: 6.580
  6 in total
  14 in total

Review 1.  The use of pharmacological retromer chaperones in Alzheimer's disease and other endosomal-related disorders.

Authors:  Diego E Berman; Dagmar Ringe; Greg A Petsko; Scott A Small
Journal:  Neurotherapeutics       Date:  2015-01       Impact factor: 7.620

Review 2.  The role of the retromer complex in aging-related neurodegeneration: a molecular and genomic review.

Authors:  Christiane Reitz
Journal:  Mol Genet Genomics       Date:  2014-10-21       Impact factor: 3.291

Review 3.  Tying trafficking to fusion and fission at the mighty mitochondria.

Authors:  Trey Farmer; Naava Naslavsky; Steve Caplan
Journal:  Traffic       Date:  2018-05-11       Impact factor: 6.215

Review 4.  Role of SNAREs in Unconventional Secretion-Focus on the VAMP7-Dependent Secretion.

Authors:  Somya Vats; Thierry Galli
Journal:  Front Cell Dev Biol       Date:  2022-06-16

5.  Retromer retrieves the Wilson disease protein ATP7B from endolysosomes in a copper-dependent manner.

Authors:  Santanu Das; Saptarshi Maji; Indira Bhattacharya; Tanusree Saha; Nabanita Naskar; Arnab Gupta
Journal:  J Cell Sci       Date:  2020-12-24       Impact factor: 5.285

Review 6.  Unveiling the cryo-EM structure of retromer.

Authors:  Mintu Chandra; Amy K Kendall; Lauren P Jackson
Journal:  Biochem Soc Trans       Date:  2020-10-30       Impact factor: 5.407

7.  Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Authors:  Bruno A Benitez; Albert A Davis; Sheng Chih Jin; Laura Ibanez; Sara Ortega-Cubero; Pau Pastor; Jiyoon Choi; Breanna Cooper; Joel S Perlmutter; Carlos Cruchaga
Journal:  Mol Neurodegener       Date:  2016-04-19       Impact factor: 14.195

8.  Atypical parkinsonism-associated retromer mutant alters endosomal sorting of specific cargo proteins.

Authors:  Kirsty J McMillan; Matthew Gallon; Adam P Jellett; Thomas Clairfeuille; Frances C Tilley; Ian McGough; Chris M Danson; Kate J Heesom; Kevin A Wilkinson; Brett M Collins; Peter J Cullen
Journal:  J Cell Biol       Date:  2016-08-15       Impact factor: 10.539

Review 9.  Role of the Retromer Complex in Neurodegenerative Diseases.

Authors:  Chaosi Li; Syed Zahid Ali Shah; Deming Zhao; Lifeng Yang
Journal:  Front Aging Neurosci       Date:  2016-03-01       Impact factor: 5.750

Review 10.  Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease.

Authors:  Stefano Gambardella; Francesca Biagioni; Rosangela Ferese; Carla L Busceti; Alessandro Frati; Giuseppe Novelli; Stefano Ruggieri; Francesco Fornai
Journal:  Front Neurosci       Date:  2016-11-24       Impact factor: 4.677
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