Genetic variability of the retromer cargo recognition complex in parkinsonism

Movement Disorders

Volumn 30, Issue 4, 2015, Pages 580-584

  Gustavsson, Emil K ^a,b,c   Guella, Ilaria ^a   Trinh, Joanne ^a   Szu Tu, Chelsea ^a   Rajput, Alex ^d   Rajput, Ali H ^d   Steele, John C ^e   Mckeown, Martin ^f   Jeon, Beom S ^g   Aasly, Jan O ^b,c   Farrer, Matthew J ^a,f  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^c TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^d SASKATOON HEALTH REGION   (Canada)

^e Guam Memorial Hospital   (Guam)

^f UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^g Seoul National University Hospital   (South Korea)

Author keywords

Mutation screening; NGS; Parkinsonism; Retromer complex; VPS26 VPS29 VPS35

Indexed keywords

ADULT; AGED; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MUTATION RATE; MUTATIONAL ANALYSIS; PARKINSONISM; PRIORITY JOURNAL; PROTEIN STRUCTURE, FUNCTION AND VARIABILITY; PROTEIN TARGETING; RETROMER CARGO RECOGNITION COMPLEX; VACUOLAR PROTEIN SORTING 26A GENE; VACUOLAR PROTEIN SORTING 26B GENE; VACUOLAR PROTEIN SORTING 29 GENE; VACUOLAR PROTEIN SORTING 35 GENE; GENETIC PREDISPOSITION; GENETICS; INTERNATIONAL COOPERATION; NUCLEOTIDE SEQUENCE; VERY ELDERLY; YOUNG ADULT;

VESICULAR TRANSPORT PROTEIN;

ADULT; AGED; AGED, 80 AND OVER; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; INTERNATIONAL COOPERATION; MALE; MIDDLE AGED; PARKINSONIAN DISORDERS; VESICULAR TRANSPORT PROTEINS; YOUNG ADULT;

EID: 84926215145     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26104     Document Type: Article

References (27)

1. Vilarino-Guell C, Wider C, Ross OA, et al. VPS35 mutations in Parkinson disease. Am J Hum Genet 2011;89:162-167. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):347.
2. Zimprich A, Benet-Pagès A, Struhal W, et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 2011;89:168-175.
3. Ando M, Funayama M, Li Y, et al. VPS35 mutation in Japanese patients with typical Parkinson's disease. Mov Disord 2012;27:1413-1417.
4. Kumar KR, Weissbach A, Heldmann M, et al. Frequency of the D620N mutation in VPS35 in Parkinson disease. Arch Neurol 2012;69:1360-1364.
5. Lesage S, Condroyer C, Klebe S, et al. Identification of VPS35 mutations replicated in French families with Parkinson disease. Neurology 2012;78:1449-1450.
6. Sharma M, Ioannidis JP, Aasly JO, et al. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet 2012;49:721-726.
7. Sheerin UM, Charlesworth G, Bras J, et al. Screening for VPS35 mutations in Parkinson's disease. Neurobiol Aging 2012;33:838 e831-e835.
8. Tsika E, Glauser L, Moser R, et al. Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration. Hum Mol Genet 2014;23:4621-4638.
9. Zavodszky E, Seaman MN, Moreau K, et al. Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy. Nat Commun 2014;5:3828.
10. McGough IJ, Steinberg F, Jia D, et al. Retromer binding to FAM21 and the WASH complex is perturbed by the Parkinson disease-linked VPS35(D620N) mutation. Curr Biol 2014;24:1670-1676.
11. Anitei M, Wassmer T, Stange C, Hoflack B. Bidirectional transport between the trans-Golgi network and the endosomal system. Mol Membr Biol 2010;27:443-456.
12. Bonifacino JS, Hurley JH. Retromer. Curr Opin Cell Biol 2008;20:427-436.
13. Rojas R, Kametaka S, Haft CR, Bonifacino JS. Interchangeable but essential functions of SNX1 and SNX2 in the association of retromer with endosomes and the trafficking of mannose 6-phosphate receptors. Mol Cell Biol 2007;27:1112-1124.
14. Koschmidder E, Mollenhauer B, Kasten M, Klein C, Lohmann K. Mutations in VPS26A are not a frequent cause of Parkinson's disease. Neurobiol Aging 2014;35:1512.e1-2.
15. Shannon B, Soto-Ortolaza A, Rayaprolu S, et al. Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease. Neurobiol Aging 2014;35:1958.e1-2.
16. Ropers F, Derivery E, Hu H, et al. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet 2011;20:2585-2590.
17. Valdmanis PN, Meijer IA, Reynolds A, et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet 2007;80:152-161.
18. Small SA, Kent K, Pierce A, et al. Model-guided microarray implicates the retromer complex in Alzheimer's disease. Ann Neurol 2005;58:909-919.
19. Rajput AH, Rozdilsky B, Rajput A. Accuracy of clinical diagnosis in parkinsonism-a prospective study. Can J Neurol Sci 1991;18:275-278.
20. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181-184.
21. Litvan I, Agid Y, Calne D, et al. Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop. Neurology 1996;47:1-9.
22. Gilman S, Wenning GK, Low PA, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology 2008;71:670-676.
23. McKeith IG, Dickson DW, Lowe J, et al. Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology 2005;65:1863-1872.
24. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38:e164.
25. Shi H, Rojas R, Bonifacino JS, Hurley JH. The retromer subunit Vps26 has an arrestin fold and binds Vps35 through its C-terminal domain. Nat Struct Mol Biol 2006;13:540-548.
26. Hierro A, Rojas AL, Rojas R, et al. Functional architecture of the retromer cargo-recognition complex. Nature 2007;449:1063-1067.
27. Struhal W, Presslauer S, Spielberger S, et al. VPS35 Parkinson's disease phenotype resembles the sporadic disease. J Neural Transm 2014;121:755-759.