Results 181 to 190 of about 9,202 (225)
New Antibodies to Advance Glucocerebrosidase Research
Journal of Parkinson’s Diseaseopenaire +2 more sources
Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.
Mol Genet MetabMinea C, Deegan PB.
europepmc +1 more source
Cerebrospinal fluid β‐glucocerebrosidase activity is reduced in parkinson's disease patients
Movement Disorders, 2017 Background: Reduced β-glucocerebrosidase activity was observed in postmortem brains of both GBA1 mutation carrier and noncarrier Parkinson's disease patients, suggesting that lower β-glucocerebrosidase activity is a key feature in the pathogenesis of PD.
Lucilla Parnetti +2 more
exaly +3 more sources
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease
Brain, 2014 Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are the most frequent known genetic risk factor for Parkinson’s disease.
Nahid Tayebi +2 more
exaly +3 more sources
Glucocerebrosidase is shaking up the synucleinopathies [PDF]
Brain, 2014 The lysosomal enzyme glucocerebrosidase, encoded by the glucocerebrosidase gene, is involved in the breakdown of glucocerebroside into glucose and ceramide. Lysosomal build-up of the substrate glucocerebroside occurs in cells of the reticulo-endothelial system in patients with Gaucher disease, a rare lysosomal storage disorder caused by the recessively
Marina Siebert +2 more
exaly +3 more sources
Glucocerebrosidase mutations in subjects with parkinsonism [PDF]
Molecular Genetics and Metabolism, 2004 Recent studies showing an association between glucocerebrosidase deficiency and parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene sequence (GBA) and enzyme activity in brain samples from 57 subjects carrying the diagnosis of Parkinson disease.
E Orviský +2 more
exaly +3 more sources