Article
Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease.
Neurobiology of aging - 1 Aug 2014
Shannon Barbara, Soto-Ortolaza Alexandra, Rayaprolu Sruti, Cannon Heather D, Labbé Catherine, Benitez Bruno A, Choi Jiyoon, Lynch Timothy, Boczarska-Jedynak Magdalena, Opala Grzegorz, Krygowska-Wajs Anna, Barcikowska Maria, Van Gerpen Jay A, Uitti Ryan J, Springer Wolfdieter, Cruchaga Carlos, Wszolek Zbigniew K, Ross Owen A
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.