Results 41 to 50 of about 11,713 (255)
Cerebrospinal fluid β-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies
Neurobiology of Disease, 2009 The autophagy–lysosomal degradation pathway plays a role in the onset and progression of neurodegenerative diseases. Clinical and genetic studies indicate that mutations of β-glucocerebrosidase represent genetic risk factors for synucleinopathies ...
L. Parnetti +14 more
doaj +1 more source
Neuroimaging in Glucocerebrosidase‐Associated Parkinsonism: A Systematic Review
Movement Disorders, 2022 Mutations in the GBA gene cause Gaucher's disease (GD) and constitute the most frequent genetic risk factor for idiopathic Parkinson's disease (iPD).
Massimo Filippi +3 more
semanticscholar +1 more source
The Spectrum of Neurological Manifestations Associated with Gaucher Disease
Diseases, 2017 Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral ...
Tamanna Roshan Lal, Ellen Sidransky
doaj +1 more source
British Journal of Clinical Pharmacology, 2021 A mutation in the GBA1 gene is the most common genetic risk factor for developing Parkinson's disease. GBA1 encodes the lysosomal enzyme glucosylceramidase beta (glucocerebrosidase, GCase) and mutations decrease enzyme activity.
Jonas M den Heijer +15 more
semanticscholar +1 more source
Evaluation of Strategies for Measuring Lysosomal Glucocerebrosidase Activity
Movement Disorders, 2021 Mutations in GBA1, which encode for the protein glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease and dementia with Lewy bodies.
Daniel Ysselstein +6 more
semanticscholar +1 more source
Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports [PDF]
Journal of Clinical and Diagnostic Research, 2015 Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India.
DOLANCHAMPA MODAK +3 more
doaj +1 more source
Nature Communications, 2019 Mutations in LRRK2 and GBA1 are common genetic risk factors for Parkinson’s disease (PD) and major efforts are underway to develop new therapeutics that target LRRK2 or glucocerebrosidase (GCase).
Daniel Ysselstein +6 more
semanticscholar +1 more source
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
Molecular Genetics & Genomic Medicine, 2020 Background Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing mutations within
Anna Malekkou +8 more
doaj +1 more source
Cytokines and Gaucher Biomarkers in Glucocerebrosidase Carriers with and Without Parkinson Disease
Movement Disorders, 2021 Homozygous and compound heterozygous variants in glucocerebrosidase (GBA) can cause Gaucher disease (GD), whereas heterozygous variants increase the risk of developing Parkinson's disease (PD).
J. Galper +7 more
semanticscholar +1 more source
Monoclonal Antibodies against Human β‐Glucocerebrosidase [PDF]
European Journal of Biochemistry, 1983 Monoclonal antibodies were obtained against the membrane‐bound lysosomal enzyme β‐glucocerebrosidase (acid β‐glucosidase), which is deficient in Gaucher's disease.BALB/c mice were immunized with homogeneous enzyme protein extracted from a sodium dodecyl sulphate/polyacrylamide gel.
Barneveld, R A +9 more
openaire +2 more sources