Associated Papers
Developing Allosteric Chaperones for GBA1-Associated Disorders-An Integrated Computational and Experimental Approach.
Montpeyo M et al.
International Journal of Molecular Sciences, 2024
Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.
Vieira SRL et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Activation and Purification of ß-Glucocerebrosidase by Exploiting its Transporter LIMP-2 - Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease.
Dobert JP et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease.
Marano M et al.
Parkinsonism & Related Disorders, 2024
GBA1-Associated Parkinson's Disease Is a Distinct Entity.
Skrahin A et al.
International Journal of Molecular Sciences, 2024
Characterization of Novel Human β-glucocerebrosidase Antibodies for Parkinson Disease Research.
Jong T et al.
Biorxiv : the Preprint Server for Biology, 2023
Neuronopathic Gaucher disease models reveal defects in cell growth promoted by Hippo pathway activation.
Messelodi D et al.
Communications Biology, 2023
Post-translational proteomics platform identifies neurite outgrowth impairments in Parkinson's disease GBA-N370S dopamine neurons.
Bogetofte H et al.
Cell Reports, 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
Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology.
Navarro-Romero A et al.
Npj Parkinson's Disease, 2022
HEPES-buffering of bicarbonate-containing culture medium perturbs lysosomal glucocerebrosidase activity.
van der Lienden MJC et al.
Journal of Cellular Biochemistry, 2022
Neuronopathic Gaucher disease: Beyond lysosomal dysfunction.
Arévalo NB et al.
Frontiers in Molecular Neuroscience, 2022
Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease.
Smith LJ et al.
Frontiers in Neurology, 2022
Glucocerebrosidase dysfunction in neurodegenerative disease.
Brooker SM et al.
Essays in Biochemistry, 2021
Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear Cells.
Avenali M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson's Disease.
Cerri S et al.
International Journal of Molecular Sciences, 2021
Fibroblasts from idiopathic Parkinson's disease exhibit deficiency of lysosomal glucocerebrosidase activity associated with reduced levels of the trafficking receptor LIMP2.
Thomas R et al.
Molecular Brain, 2021
The biochemical basis of interactions between Glucocerebrosidase and alpha-synuclein in GBA1 mutation carriers.
Toffoli M et al.
Journal of Neurochemistry, 2020
Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype.
Liou B et al.
Scientific Reports, 2019
Exploring genetic modifiers of Gaucher disease: The next horizon.
Davidson BA et al.
Human Mutation, 2018
Molecular regulations and therapeutic targets of Gaucher disease.
Chen Y et al.
Cytokine & Growth Factor Reviews, 2018
β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding Site.
Zheng J et al.
Journal of the American Chemical Society, 2018
Engineering of GlcNAc-1-Phosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy.
Liu L et al.
Molecular Therapy. Methods & Clinical Development, 2017
Mitochondrial dysfunction associated with glucocerebrosidase deficiency.
Gegg ME et al.
Neurobiology of Disease, 2016
Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2.
Zunke F et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.
Fernandes HJ et al.
Stem Cell Reports, 2016
No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 polymorphisms with Parkinson's disease in a Chinese Han population.
Chen Y et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2015
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Alcalay RN et al.
Brain : a Journal of Neurology, 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
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.
Bras J et al.
Human Molecular Genetics, 2014
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.
McNeill A et al.
Brain : a Journal of Neurology, 2014
Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.
Gonzalez A et al.
Molecular Genetics and Metabolism, 2014
Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.
Siebert M et al.
Rna Biology, 2014
FKBP10 depletion enhances glucocerebrosidase proteostasis in Gaucher disease fibroblasts.
Ong DS et al.
Chemistry & Biology, 2013
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts.
Aureli M et al.
Journal of Inherited Metabolic Disease, 2012
Characterization of the N370S mutant of glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
Tang L et al.
Chembiochem : a European Journal of Chemical Biology, 2012
Gaucher disease paradigm: from ERAD to comorbidity.
Bendikov-Bar I et al.
Human Mutation, 2012
Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease.
Kurzawa-Akanbi M et al.
Journal of Neurochemistry, 2012
A monozygotic twin pair with highly discordant Gaucher phenotypes.
Biegstraaten M et al.
Blood Cells, Molecules & Diseases, 2011
X-ray and biochemical analysis of N370S mutant human acid β-glucosidase.
Wei RR et al.
The Journal of Biological Chemistry, 2011
A Guided Tour of the Structural Biology of Gaucher Disease: Acid-β-Glucosidase and Saposin C.
Lieberman RL
Enzyme Research, 2011
Neuropathic Gaucher disease.
Pastores GM
Wiener Medizinische Wochenschrift (1946), 2010
Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease.
Pastores GM
Current Opinion in Investigational Drugs (london, England : 2000), 2010
Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability.
Lieberman RL et al.
Biochemistry, 2009