title: Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease.
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.
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Barbara
authors.initials: B
authors.lastname: Shannon
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Soto-Ortolaza
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Sruti
authors.initials: S
authors.lastname: Rayaprolu
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Heather D
authors.initials: HD
authors.lastname: Cannon
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Catherine
authors.initials: C
authors.lastname: Labbé
authors.affiliation: Hope Center for Neurological Disorders, Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA; Department of Psychiatry, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: Bruno A
authors.initials: BA
authors.lastname: Benitez
authors.affiliation: Hope Center for Neurological Disorders, Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA; Department of Psychiatry, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: Jiyoon
authors.initials: J
authors.lastname: Choi
authors.affiliation: Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland.
authors.forename: Timothy
authors.initials: T
authors.lastname: Lynch
authors.affiliation: Department of Neurology, Medical University of Silesia, Katowice, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Boczarska-Jedynak
authors.affiliation: Department of Neurology, Medical University of Silesia, Katowice, Poland.
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Opala
authors.affiliation: Department of Neurology, Jagiellonian University, Krakow, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Krygowska-Wajs
authors.affiliation: Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: Maria
authors.initials: M
authors.lastname: Barcikowska
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Jay A
authors.initials: JA
authors.lastname: Van Gerpen
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Ryan J
authors.initials: RJ
authors.lastname: Uitti
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Neurobiology of Disease Track, Mayo Graduate School, Mayo Clinic, Rochester, MN, USA.
authors.forename: Wolfdieter
authors.initials: W
authors.lastname: Springer
authors.affiliation: Hope Center for Neurological Disorders, Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA; Department of Psychiatry, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: Carlos
authors.initials: C
authors.lastname: Cruchaga
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Neurobiology of Disease Track, Mayo Graduate School, Mayo Clinic, Rochester, MN, USA. Electronic address: ross.owen@mayo.edu.
authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D056726:Genetic Association Studies; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C498296:VPS26A protein, human; C419572:VPS29 protein, human; D033921:Vesicular Transport Proteins
keywords: Genetics; Parkinson's disease and/or Parkinsonism; Retromer; VPS35