Literature DB >> 22227325

Is E326K glucocerebrosidase a polymorphic or pathological variant?

Benjamin Liou, Gregory A Grabowski.   

Abstract

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Year:  2011        PMID： 22227325     DOI： 10.1016/j.ymgme.2011.12.002

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


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  8 in total

Review 1.  GBA Variants and Parkinson Disease: Mechanisms and Treatments.

Authors:  Laura Smith; Anthony H V Schapira
Journal:  Cells       Date:  2022-04-08       Impact factor: 7.666

2.  The LIMP-2/SCARB2 binding motif on acid β-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases.

Authors:  Benjamin Liou; Wendy D Haffey; Kenneth D Greis; Gregory A Grabowski
Journal:  J Biol Chem       Date:  2014-09-08       Impact factor: 5.157

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.  Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.

Authors:  Ganqiang Liu; Brendon Boot; Joseph J Locascio; Iris E Jansen; Sophie Winder-Rhodes; Shirley Eberly; Alexis Elbaz; Alexis Brice; Bernard Ravina; Jacobus J van Hilten; Florence Cormier-Dequaire; Jean-Christophe Corvol; Roger A Barker; Peter Heutink; Johan Marinus; Caroline H Williams-Gray; Clemens R Scherzer
Journal:  Ann Neurol       Date:  2016-11       Impact factor: 10.422

Review 5.  GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches.

Authors:  Giulietta M Riboldi; Alessio B Di Fonzo
Journal:  Cells       Date:  2019-04-19       Impact factor: 6.600

Review 6.  Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease.

Authors:  Laura J Smith; Chiao-Yin Lee; Elisa Menozzi; Anthony H V Schapira
Journal:  Front Neurol       Date:  2022-08-12       Impact factor: 4.086

7.  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

8.  No evidence for substrate accumulation in Parkinson brains with GBA mutations.

Authors:  Matthew E Gegg; Lindsay Sweet; Bing H Wang; Lamya S Shihabuddin; Sergio Pablo Sardi; Anthony H V Schapira
Journal:  Mov Disord       Date:  2015-06-11       Impact factor: 10.338
  8 in total

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