Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)-Reference-Cited by-同舟云学术

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Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)

Published:2015-09 Issue:1 Volume:465 Page:35-40
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Sultana Saki,Reichbauer Jennifer,Schüle Rebecca,Mochel Fanny,Synofzik Matthis,van der Spoel Aarnoud C.

Funder

Natural Sciences and Engineering Research Council (NSERC) of Canada

European Unio

Interdisciplinary Center

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference25 articles.

1. Glycolipids: Animal, Encyclopedia of Life Sciences;Hakomori,2001

2. Pre- and post-Golgi translocation of glucosylceramide in glycosphingolipid synthesis;Halter;J. Cell Biol.,2007

3. Principles of lysosomal membrane degradation: cellular topology and biochemistry of lysosomal lipid degradation;Schulze;Biochim. Biophys. Acta,2009

4. Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility;Yildiz;J. Clin. Investig.,2006

5. Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase;Hayashi;J. Biol. Chem.,2007

Cited by 36 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature;Neurogenetics;2024-02-09

2. First-in-human single-dose study of nizubaglustat, a dual inhibitor of ceramide glucosyltransferase and non-lysosomal glucosylceramidase: Safety, tolerability, pharmacokinetics, and pharmacodynamics of single ascending and multiple doses in healthy adults;Molecular Genetics and Metabolism;2024-01

3. Selective labelling of GBA2 in cells with fluorescent β-d-arabinofuranosyl cyclitol aziridines;Chemical Science;2024

4. Reaction Mechanism of Glycoside Hydrolase Family 116 Utilizes Perpendicular Protonation;ACS Catalysis;2023-04-14

5. GBA1 Gene Mutations in α-Synucleinopathies—Molecular Mechanisms Underlying Pathology and Their Clinical Significance;International Journal of Molecular Sciences;2023-01-20

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