Literature DB >> 21831682

The enigma of the E326K mutation in acid β-glucocerebrosidase.

Mia Horowitz1, Metsada Pasmanik-Chor, Idit Ron, Edwin H Kolodny.   

Abstract

A large number of mutations, and several polymorphisms, have been characterized in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase, the activity of which is impaired in Gaucher disease. In this communication we summarize published and new data concerning biochemical characterization of the E326K amino acid change (1093G>A in the GBA1 cDNA) in tissue culture and its association with Parkinson disease, suggesting it is a disease causing mutation and not merely a polymorphism in the GBA gene.
Copyright © 2011 Elsevier Inc. All rights reserved.

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21831682     DOI： 10.1016/j.ymgme.2011.07.002

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  22 in total

1.  Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.

Authors:  Roy N Alcalay; Oren A Levy; Cheryl C Waters; Stanley Fahn; Blair Ford; Sheng-Han Kuo; Pietro Mazzoni; Michael W Pauciulo; William C Nichols; Ziv Gan-Or; Guy A Rouleau; Wendy K Chung; Pavlina Wolf; Petra Oliva; Joan Keutzer; Karen Marder; Xiaokui Zhang
Journal:  Brain       Date:  2015-06-27       Impact factor: 13.501

2.  Greater risk of parkinsonism associated with non-N370S GBA1 mutations.

Authors:  M J Barrett; P Giraldo; J L Capablo; P Alfonso; P Irun; B Garcia-Rodriguez; M Pocovi; G M Pastores
Journal:  J Inherit Metab Dis       Date:  2012-09-12       Impact factor: 4.982

Review 3.  Glucocerebrosidase is shaking up the synucleinopathies.

Authors:  Marina Siebert; Ellen Sidransky; Wendy Westbroek
Journal:  Brain       Date:  2014-02-14       Impact factor: 13.501

4.  Variants associated with Gaucher disease in multiple system atrophy.

Authors:  Jun Mitsui; Takashi Matsukawa; Hidenao Sasaki; Ichiro Yabe; Masaaki Matsushima; Alexandra Dürr; Alexis Brice; Hiroshi Takashima; Akio Kikuchi; Masashi Aoki; Hiroyuki Ishiura; Tsutomu Yasuda; Hidetoshi Date; Budrul Ahsan; Atsushi Iwata; Jun Goto; Yaeko Ichikawa; Yasuo Nakahara; Yoshio Momose; Yuji Takahashi; Kenju Hara; Akiyoshi Kakita; Mitsunori Yamada; Hitoshi Takahashi; Osamu Onodera; Masatoyo Nishizawa; Hirohisa Watanabe; Mizuki Ito; Gen Sobue; Kinya Ishikawa; Hidehiro Mizusawa; Kazuaki Kanai; Takamichi Hattori; Satoshi Kuwabara; Kimihito Arai; Shigeru Koyano; Yoshiyuki Kuroiwa; Kazuko Hasegawa; Tatsuhiko Yuasa; Kenichi Yasui; Kenji Nakashima; Hijiri Ito; Yuishin Izumi; Ryuji Kaji; Takeo Kato; Susumu Kusunoki; Yasushi Osaki; Masahiro Horiuchi; Tomoyoshi Kondo; Shigeo Murayama; Nobutaka Hattori; Mitsutoshi Yamamoto; Miho Murata; Wataru Satake; Tatsushi Toda; Alessandro Filla; Thomas Klockgether; Ullrich Wüllner; Garth Nicholson; Sid Gilman; Caroline M Tanner; Walter A Kukull; Mathew B Stern; Virginia M-Y Lee; John Q Trojanowski; Eliezer Masliah; Phillip A Low; Paola Sandroni; Laurie J Ozelius; Tatiana Foroud; Shoji Tsuji
Journal:  Ann Clin Transl Neurol       Date:  2015-02-28       Impact factor: 4.511

5.  GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.

Authors:  Silvia Jesús; Ismael Huertas; Inmaculada Bernal-Bernal; Marta Bonilla-Toribio; María Teresa Cáceres-Redondo; Laura Vargas-González; Myriam Gómez-Llamas; Fátima Carrillo; Enrique Calderón; Manuel Carballo; Pilar Gómez-Garre; Pablo Mir
Journal:  PLoS One       Date:  2016-12-28       Impact factor: 3.240

6.  The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.

Authors:  Raquel Duran; Niccolo E Mencacci; Aikaterini V Angeli; Maryam Shoai; Emma Deas; Henry Houlden; Atul Mehta; Derralynn Hughes; Timothy M Cox; Patrick Deegan; Anthony H Schapira; Andrew J Lees; Patricia Limousin; Paul R Jarman; Kailash P Bhatia; Nicholas W Wood; John Hardy; Tom Foltynie
Journal:  Mov Disord       Date:  2012-12-05       Impact factor: 10.338

7.  Functional analysis of 11 novel GBA alleles.

Authors:  Erika Malini; Serena Grossi; Marta Deganuto; Camillo Rosano; Rossella Parini; Silvia Dominisini; Roberta Cariati; Stefania Zampieri; Bruno Bembi; Mirella Filocamo; Andrea Dardis
Journal:  Eur J Hum Genet       Date:  2013-09-11       Impact factor: 4.246

8.  Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease.

Authors:  Marie Y Davis; Catherine O Johnson; James B Leverenz; Daniel Weintraub; John Q Trojanowski; Alice Chen-Plotkin; Vivianna M Van Deerlin; Joseph F Quinn; Kathryn A Chung; Amie L Peterson-Hiller; Liana S Rosenthal; Ted M Dawson; Marilyn S Albert; Jennifer G Goldman; Glenn T Stebbins; Bryan Bernard; Zbigniew K Wszolek; Owen A Ross; Dennis W Dickson; David Eidelberg; Paul J Mattis; Martin Niethammer; Dora Yearout; Shu-Ching Hu; Brenna A Cholerton; Megan Smith; Ignacio F Mata; Thomas J Montine; Karen L Edwards; Cyrus P Zabetian
Journal:  JAMA Neurol       Date:  2016-10-01       Impact factor: 18.302

9.  β-Glucocerebrosidase activity in GBA-linked Parkinson disease: The type of mutation matters.

Authors:  Young Eun Huh; Ming Sum Ruby Chiang; Joseph J Locascio; Zhixiang Liao; Ganqiang Liu; Karbi Choudhury; Yuliya I Kuras; Idil Tuncali; Aleksandar Videnovic; Ann L Hunt; Michael A Schwarzschild; Albert Y Hung; Todd M Herrington; Michael T Hayes; Bradley T Hyman; Anne-Marie Wills; Stephen N Gomperts; John H Growdon; Sergio Pablo Sardi; Clemens R Scherzer
Journal:  Neurology       Date:  2020-06-15       Impact factor: 9.910

10.  Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Authors:  Bruno A Benitez; Albert A Davis; Sheng Chih Jin; Laura Ibanez; Sara Ortega-Cubero; Pau Pastor; Jiyoon Choi; Breanna Cooper; Joel S Perlmutter; Carlos Cruchaga
Journal:  Mol Neurodegener       Date:  2016-04-19       Impact factor: 14.195
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.