TY - JOUR
T1 - Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease
AU - Shannon, Barbara
AU - Soto-Ortolaza, Alexandra
AU - Rayaprolu, Sruti
AU - Cannon, Heather D.
AU - Labbé, Catherine
AU - Benitez, Bruno A.
AU - Choi, Jiyoon
AU - Lynch, Timothy
AU - Boczarska-Jedynak, Magdalena
AU - Opala, Grzegorz
AU - Krygowska-Wajs, Anna
AU - Barcikowska, Maria
AU - Van Gerpen, Jay A.
AU - Uitti, Ryan J.
AU - Springer, Wolfdieter
AU - Cruchaga, Carlos
AU - Wszolek, Zbigniew K.
AU - Ross, Owen A.
N1 - 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.
PY - 2014/8
Y1 - 2014/8
N2 - 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.
AB - 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.
KW - Genetics
KW - Parkinson's disease and/or Parkinsonism
KW - Retromer
KW - VPS35
UR - http://www.scopus.com/inward/record.url?scp=84899964932&partnerID=8YFLogxK
U2 - 10.1016/j.neurobiolaging.2014.03.004
DO - 10.1016/j.neurobiolaging.2014.03.004
M3 - Article
C2 - 24684791
AN - SCOPUS:84899964932
SN - 0197-4580
VL - 35
SP - 1958.e1-1958.e2
JO - Neurobiology of Aging
JF - Neurobiology of Aging
IS - 8
ER -