@article{82858de9ca464fe49bc7a200e6aef7fb,
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.",
keywords = "Genetics, Parkinson's disease and/or Parkinsonism, Retromer, VPS35",
author = "Barbara Shannon and Alexandra Soto-Ortolaza and Sruti Rayaprolu and Cannon, {Heather D.} and Catherine Labb{\'e} and Benitez, {Bruno A.} and Jiyoon Choi and Timothy Lynch and Magdalena Boczarska-Jedynak and Grzegorz Opala and Anna Krygowska-Wajs and Maria Barcikowska and {Van Gerpen}, {Jay A.} and Uitti, {Ryan J.} and Wolfdieter Springer and Carlos Cruchaga and Wszolek, {Zbigniew K.} and Ross, {Owen A.}",
note = "Funding Information: The authors would like to thank all those who have contributed to our research, particularly the patients and families who donated DNA samples for this work. DNA of the subject harboring the VPS29 p.N72H substitution is deposited at the Coriell Cell Repositories at the Coriell Institute for Medical Research (Sample ID#: ND06245). This work is supported by a Morris K. Udall Parkinson's Disease Research Center of Excellence ( NINDS P50 #NS072187 ), NINDS R01 NS078086 , and a gift from Carl Edward Bolch, Jr and Susan Bass Bolch. ",
year = "2014",
month = aug,
doi = "10.1016/j.neurobiolaging.2014.03.004",
language = "English (US)",
volume = "35",
pages = "1958.e1--1958.e2",
journal = "Neurobiology of aging",
issn = "0197-4580",
publisher = "Elsevier Inc.",
number = "8",
}