Associated Papers
Neutral sp2-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases.
García-Moreno MI et al.
European Journal of Medicinal Chemistry, 2026
6-O-alkyl 4-methylumbelliferyl-β-D-glucosides as selective substrates for GBA1 in the discovery of glycosylated sterols.
Bannink S et al.
Journal of Lipid Research, 2024
The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines.
Smith LJ et al.
Human Molecular Genetics, 2023
Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review.
Giuffrida G et al.
Orphanet Journal of Rare Diseases, 2023
GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance.
Granek Z et al.
International Journal of Molecular Sciences, 2023
A versatile fluorescence-quenched substrate for quantitative measurement of glucocerebrosidase activity within live cells.
Deen MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α-Synuclein in PDGBA.
Lerche S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions.
Boer DE et al.
Journal of Lipid Research, 2021
Glucocerebrosidase: Functions in and Beyond the Lysosome.
Boer DEC et al.
Journal of Clinical Medicine, 2020
Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease.
Aerts JMFG et al.
Current Opinion in Chemical Biology, 2019
Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.
Huebecker M et al.
Molecular Neurodegeneration, 2019
Glucocerebrosidase and its relevance to Parkinson disease.
Do J et al.
Molecular Neurodegeneration, 2019
The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism.
Indellicato R et al.
International Journal of Molecular Sciences, 2019
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.
Kim EA et al.
International Journal of Hematology, 2019
Distinguishing the differences in β-glycosylceramidase folds, dynamics, and actions informs therapeutic uses.
Ben Bdira F et al.
Journal of Lipid Research, 2018
Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes.
Franco R et al.
Frontiers in Neuroanatomy, 2018
Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease.
Taguchi YV et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017
N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease.
García-Sanz P et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Concise Review: Induced Pluripotent Stem Cell Research in the Era of Precision Medicine.
Hamazaki T et al.
Stem Cells (dayton, Ohio), 2017
Identification of Modifier Genes in a Mouse Model of Gaucher Disease.
Klein AD et al.
Cell Reports, 2016
Understanding the natural history of Gaucher disease.
Mistry PK et al.
American Journal of Hematology, 2015
Emerging therapeutic targets for Gaucher disease.
Vitner EB et al.
Expert Opinion on Therapeutic Targets, 2015
Tool compounds robustly increase turnover of an artificial substrate by glucocerebrosidase in human brain lysates.
Berger Z et al.
Plos One, 2015
Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.
Clark LN et al.
Plos One, 2015
Development of targeted therapies for Parkinson's disease and related synucleinopathies.
Sybertz E et al.
Journal of Lipid Research, 2014
Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.
Serra-Vinardell J et al.
The International Journal of Biochemistry & Cell Biology, 2014
iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis.
Schöndorf DC et al.
Nature Communications, 2014
Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses.
Ferraz MJ et al.
Biochimica Et Biophysica Acta, 2014
Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis.
Gaspar P et al.
Journal of Lipid Research, 2014
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
Yildiz Y et al.
Orphanet Journal of Rare Diseases, 2013
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.
Burke DG et al.
Journal of Inherited Metabolic Disease, 2013
The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi.
Körschen HG et al.
The Journal of Biological Chemistry, 2013
Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism.
Mistry PK et al.
Critical Reviews in Oncogenesis, 2013
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts.
Aureli M et al.
Journal of Inherited Metabolic Disease, 2012
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.
Gegg ME et al.
Annals of Neurology, 2012
Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans.
Harzer K et al.
Biochemical and Biophysical Research Communications, 2012
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.
Zhang CK et al.
American Journal of Hematology, 2012
High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients.
Rozenberg R et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2006
Genotype/phenotype correlations in Gaucher's disease.
Mistry PK
Lancet (london, England), 1995