Literature DB >> 32197197

Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations.

Philip W Tipton1, Alexandra I Soto-Beasley2, Ronald L Walton2, Silvia Soler-Rangel3, Óscar Romero-Osorio3, Cindy Díaz3, Claudia Lucía Moreno-López4, Owen A Ross5, Zbigniew K Wszolek6, Catalina Cerquera-Cleves7.   

Abstract

We aimed to replicate a recent study that found a high frequency of the GBA p.K198E mutant in Colombian patients with PD. We identified the p.K198E substitution at a lower frequency in our cohort of Colombians with PD (2.1%), and this was not significantly different than controls (1.7%, P = 0.86) emphasizing the need for larger genetic studies in Latin America.
Copyright © 2020 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  GBA; Gaucher's disease; Genetics; Parkinson's disease

Mesh：

Substances：

Year:  2020        PMID： 32197197      PMCID： PMC7528207          DOI： 10.1016/j.parkreldis.2020.03.008

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


  5 in total

1.  A genetic cluster of early onset Parkinson's disease in a Colombian population.

Authors:  Nicolas Pineda-Trujillo; Maria Apergi; Sonia Moreno; William Arias; Suzanne Lesage; Alejandro Franco; Diego Sepulveda-Falla; David Cano; Omar Buriticá; David Pineda; Carlos Santiago Uribe; Justo Garcia de Yebenes; Andrew J Lees; Alexis Brice; Gabriel Bedoya; Francisco Lopera; Andres Ruiz-Linares
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2006-12-05       Impact factor: 3.568

2.  Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

Authors:  Michael J Eblan; Joann Nguyen; Shira G Ziegler; Alicia Lwin; Melissa Hanson; Marisol Gallardo; Roberto Weiser; Marisel De Lucca; Andrew Singleton; Ellen Sidransky
Journal:  Mov Disord       Date:  2006-02       Impact factor: 10.338

3.  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

4.  The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

Authors:  E Orvisky; J K Park; A Parker; J M Walker; B M Martin; B K Stubblefield; E Uyama; N Tayebi; E Sidransky
Journal:  Hum Mutat       Date:  2002-04       Impact factor: 4.878

5.  The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru.

Authors:  Carlos Velez-Pardo; Oswaldo Lorenzo-Betancor; Marlene Jimenez-Del-Rio; Sonia Moreno; Francisco Lopera; Mario Cornejo-Olivas; Luis Torres; Miguel Inca-Martinez; Pilar Mazzetti; Carlos Cosentino; Dora Yearout; Sarah M Waldherr; Cyrus P Zabetian; Ignacio F Mata
Journal:  Parkinsonism Relat Disord       Date:  2019-02-04       Impact factor: 4.891
  5 in total
  1 in total

1.  Lack of full sequencing GBA1 studies for patients with Parkinson's disease in Latin America.

Authors:  Bruno Lopes Santos-Lobato; Artur F Schumacher-Schuh; Ignacio F Mata
Journal:  NPJ Parkinsons Dis       Date:  2022-08-08
  1 in total

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