Literature DB >> 30302829

Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.

Cornelis Blauwendraat1, Jose M Bras2, Mike A Nalls2,3, Patrick A Lewis4,5, Dena G Hernandez1, Andrew B Singleton1.   

Abstract

Entities:  

Keywords:  GBA; Parkinson's disease; genome-wide association; glucocerebrosidase; risk allele

Mesh:

Substances:

Year:  2018        PMID: 30302829      PMCID: PMC6379910          DOI: 10.1002/mds.103

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


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  6 in total

1.  Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Authors:  E Sidransky; M A Nalls; J O Aasly; J Aharon-Peretz; G Annesi; E R Barbosa; A Bar-Shira; D Berg; J Bras; A Brice; C-M Chen; L N Clark; C Condroyer; E V De Marco; A Dürr; M J Eblan; S Fahn; M J Farrer; H-C Fung; Z Gan-Or; T Gasser; R Gershoni-Baruch; N Giladi; A Griffith; T Gurevich; C Januario; P Kropp; A E Lang; G-J Lee-Chen; S Lesage; K Marder; I F Mata; A Mirelman; J Mitsui; I Mizuta; G Nicoletti; C Oliveira; R Ottman; A Orr-Urtreger; L V Pereira; A Quattrone; E Rogaeva; A Rolfs; H Rosenbaum; R Rozenberg; A Samii; T Samaddar; C Schulte; M Sharma; A Singleton; M Spitz; E-K Tan; N Tayebi; T Toda; A R Troiano; S Tsuji; M Wittstock; T G Wolfsberg; Y-R Wu; C P Zabetian; Y Zhao; S G Ziegler
Journal:  N Engl J Med       Date:  2009-10-22       Impact factor: 91.245

2.  The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal.

Authors:  Victoria Berge-Seidl; Lasse Pihlstrøm; Jodi Maple-Grødem; Lars Forsgren; Jan Linder; Jan Petter Larsen; Ole-Bjørn Tysnes; Mathias Toft
Journal:  Neurosci Lett       Date:  2017-08-19       Impact factor: 3.046

3.  Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

Authors:  Judith Aharon-Peretz; Hanna Rosenbaum; Ruth Gershoni-Baruch
Journal:  N Engl J Med       Date:  2004-11-04       Impact factor: 91.245

4.  Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.

Authors:  Joseph R Mazzulli; Friederike Zunke; Taiji Tsunemi; Nicholas J Toker; Sohee Jeon; Lena F Burbulla; Samarjit Patnaik; Ellen Sidransky; Juan J Marugan; Carolyn M Sue; Dimitri Krainc
Journal:  J Neurosci       Date:  2016-07-20       Impact factor: 6.167

5.  NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases.

Authors:  Mike A Nalls; Jose Bras; Dena G Hernandez; Margaux F Keller; Elisa Majounie; Alan E Renton; Mohamad Saad; Iris Jansen; Rita Guerreiro; Steven Lubbe; Vincent Plagnol; J Raphael Gibbs; Claudia Schulte; Nathan Pankratz; Margaret Sutherland; Lars Bertram; Christina M Lill; Anita L DeStefano; Tatiana Faroud; Nicholas Eriksson; Joyce Y Tung; Connor Edsall; Noah Nichols; Janet Brooks; Sampath Arepalli; Hannah Pliner; Chris Letson; Peter Heutink; Maria Martinez; Thomas Gasser; Bryan J Traynor; Nick Wood; John Hardy; Andrew B Singleton
Journal:  Neurobiol Aging       Date:  2014-08-04       Impact factor: 4.673

6.  Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.

Authors:  Mike A Nalls; Nathan Pankratz; Christina M Lill; Chuong B Do; Dena G Hernandez; Mohamad Saad; Anita L DeStefano; Eleanna Kara; Jose Bras; Manu Sharma; Claudia Schulte; Margaux F Keller; Sampath Arepalli; Christopher Letson; Connor Edsall; Hreinn Stefansson; Xinmin Liu; Hannah Pliner; Joseph H Lee; Rong Cheng; M Arfan Ikram; John P A Ioannidis; Georgios M Hadjigeorgiou; Joshua C Bis; Maria Martinez; Joel S Perlmutter; Alison Goate; Karen Marder; Brian Fiske; Margaret Sutherland; Georgia Xiromerisiou; Richard H Myers; Lorraine N Clark; Kari Stefansson; John A Hardy; Peter Heutink; Honglei Chen; Nicholas W Wood; Henry Houlden; Haydeh Payami; Alexis Brice; William K Scott; Thomas Gasser; Lars Bertram; Nicholas Eriksson; Tatiana Foroud; Andrew B Singleton
Journal:  Nat Genet       Date:  2014-07-27       Impact factor: 38.330

  6 in total
  12 in total

Review 1.  The role of monogenic genes in idiopathic Parkinson's disease.

Authors:  Xylena Reed; Sara Bandrés-Ciga; Cornelis Blauwendraat; Mark R Cookson
Journal:  Neurobiol Dis       Date:  2018-11-15       Impact factor: 5.996

2.  WHOPPA Enables Parallel Assessment of Leucine-Rich Repeat Kinase 2 and Glucocerebrosidase Enzymatic Activity in Parkinson's Disease Monocytes.

Authors:  Rebecca L Wallings; Laura P Hughes; Hannah A Staley; Zachary D Simon; Nikolaus R McFarland; Roy N Alcalay; Alicia Garrido; María José Martí; Eduardo Tolosa Sarró; Nicolas Dzamko; Malú Gámez Tansey
Journal:  Front Cell Neurosci       Date:  2022-06-09       Impact factor: 6.147

Review 3.  Current and emerging therapeutic targets for Parkinson's disease.

Authors:  Tanvi Pingale; Girdhari Lal Gupta
Journal:  Metab Brain Dis       Date:  2020-10-22       Impact factor: 3.584

4.  Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.

Authors:  Uladzislau Rudakou; Eric Yu; Lynne Krohn; Jennifer A Ruskey; Farnaz Asayesh; Yves Dauvilliers; Dan Spiegelman; Lior Greenbaum; Stanley Fahn; Cheryl H Waters; Nicolas Dupré; Guy A Rouleau; Sharon Hassin-Baer; Edward A Fon; Roy N Alcalay; Ziv Gan-Or
Journal:  Brain       Date:  2021-03-03       Impact factor: 13.501

5.  Ten Years of the International Parkinson Disease Genomics Consortium: Progress and Next Steps.

Authors: 
Journal:  J Parkinsons Dis       Date:  2020       Impact factor: 5.568

6.  GBA variants in REM sleep behavior disorder: A multicenter study.

Authors:  Lynne Krohn; Jennifer A Ruskey; Uladzislau Rudakou; Etienne Leveille; Farnaz Asayesh; Michele T M Hu; Isabelle Arnulf; Yves Dauvilliers; Birgit Högl; Ambra Stefani; Christelle Charley Monaca; Beatriz Abril; Giuseppe Plazzi; Elena Antelmi; Luigi Ferini-Strambi; Anna Heidbreder; Bradley F Boeve; Alberto J Espay; Valérie Cochen De Cock; Brit Mollenhauer; Friederike Sixel-Döring; Claudia Trenkwalder; Karel Sonka; David Kemlink; Michela Figorilli; Monica Puligheddu; Femke Dijkstra; Mineke Viaene; Wolfgang Oertel; Marco Toffoli; Gian Luigi Gigli; Mariarosaria Valente; Jean-François Gagnon; Alex Desautels; Jacques Y Montplaisir; Ronald B Postuma; Guy A Rouleau; Ziv Gan-Or
Journal:  Neurology       Date:  2020-06-26       Impact factor: 9.910

Review 7.  Exploring the Genotype-Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers.

Authors:  Elisa Menozzi; Anthony H V Schapira
Journal:  Front Neurol       Date:  2021-06-24       Impact factor: 4.003

8.  Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts.

Authors:  Hirotaka Iwaki; Cornelis Blauwendraat; Hampton L Leonard; Jonggeol J Kim; Ganqiang Liu; Jodi Maple-Grødem; Jean-Christophe Corvol; Lasse Pihlstrøm; Marlies van Nimwegen; Samantha J Hutten; Khanh-Dung H Nguyen; Jacqueline Rick; Shirley Eberly; Faraz Faghri; Peggy Auinger; Kirsten M Scott; Ruwani Wijeyekoon; Vivianna M Van Deerlin; Dena G Hernandez; J Raphael Gibbs; Kumaraswamy Naidu Chitrala; Aaron G Day-Williams; Alexis Brice; Guido Alves; Alastair J Noyce; Ole-Bjørn Tysnes; Jonathan R Evans; David P Breen; Karol Estrada; Claire E Wegel; Fabrice Danjou; David K Simon; Ole Andreassen; Bernard Ravina; Mathias Toft; Peter Heutink; Bastiaan R Bloem; Daniel Weintraub; Roger A Barker; Caroline H Williams-Gray; Bart P van de Warrenburg; Jacobus J Van Hilten; Clemens R Scherzer; Andrew B Singleton; Mike A Nalls
Journal:  Mov Disord       Date:  2019-09-10       Impact factor: 9.698

Review 9.  Vesicular Dysfunction and the Pathogenesis of Parkinson's Disease: Clues From Genetic Studies.

Authors:  Kirsten Ebanks; Patrick A Lewis; Rina Bandopadhyay
Journal:  Front Neurosci       Date:  2020-01-08       Impact factor: 4.677

10.  Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.

Authors:  Cornelis Blauwendraat; Xylena Reed; Lynne Krohn; Karl Heilbron; Sara Bandres-Ciga; Manuela Tan; J Raphael Gibbs; Dena G Hernandez; Ravindran Kumaran; Rebekah Langston; Luis Bonet-Ponce; Roy N Alcalay; Sharon Hassin-Baer; Lior Greenbaum; Hirotaka Iwaki; Hampton L Leonard; Francis P Grenn; Jennifer A Ruskey; Marya Sabir; Sarah Ahmed; Mary B Makarious; Lasse Pihlstrøm; Mathias Toft; Jacobus J van Hilten; Johan Marinus; Claudia Schulte; Kathrin Brockmann; Manu Sharma; Ari Siitonen; Kari Majamaa; Johanna Eerola-Rautio; Pentti J Tienari; Alexander Pantelyat; Argye E Hillis; Ted M Dawson; Liana S Rosenthal; Marilyn S Albert; Susan M Resnick; Luigi Ferrucci; Christopher M Morris; Olga Pletnikova; Juan Troncoso; Donald Grosset; Suzanne Lesage; Jean-Christophe Corvol; Alexis Brice; Alastair J Noyce; Eliezer Masliah; Nick Wood; John Hardy; Lisa M Shulman; Joseph Jankovic; Joshua M Shulman; Peter Heutink; Thomas Gasser; Paul Cannon; Sonja W Scholz; Huw Morris; Mark R Cookson; Mike A Nalls; Ziv Gan-Or; Andrew B Singleton
Journal:  Brain       Date:  2020-01-01       Impact factor: 13.501

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