Results 71 to 80 of about 10,389 (214)
Molecular analysis and expression of the human glucocerebrosidase gene [PDF]
, 2017 Gaucher disease is the most prevalent lysosomal lipid storage disease caused by deficient glucocerebrosidase activity. It is transmitted as an autosomal recessive trait.
Wei, Chao
core
LIMP-2 Is a Receptor for Lysosomal Mannose-6-Phosphate-Independent Targeting of β-Glucocerebrosidase
, 2007 Summaryβ-glucocerebrosidase, the enzyme defective in Gaucher disease, is targeted to the lysosome independently of the mannose-6-phosphate receptor. Affinity-chromatography experiments revealed that the lysosomal integral membrane protein LIMP-2 is a ...
Edmunds, Tim +9 more
core +1 more source
Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease [PDF]
, 2020 Background: Glucocerebrosidase gene mutations are a common genetic risk factor for Parkinson's disease. They exhibit incomplete penetrance.
Hughes, D +8 more
core +1 more source
Frontiers in Aging NeuroscienceObjectiveThis meta-analysis aimed to investigate the effects of glucocerebrosidase gene (GBA) variations on the risk of Parkinson’s disease dementia (PDD) and to identify the relationship between GBA variations and PDD.MethodA comprehensive search was ...
Qiujie Li +8 more
doaj +1 more source
Gaucher disease and the synucleinopathies: refining the relationship
Orphanet Journal of Rare Diseases, 2012 Gaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with hepatosplenomegaly, haematological
Campbell Tessa N, Choy Francis YM
doaj +1 more source
β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding Site [PDF]
Journal of the American Chemical Society, 2018 β-Glucocerebrosidase (GCase) mutations cause Gaucher's disease and are a high risk factor in Parkinson's disease. The implementation of a small molecule modulator is a strategy to restore proper folding and lysosome delivery of degradation-prone mutant GCase. Here, we present a potent quinazoline modulator, JZ-4109, which stabilizes wild-type and N370S
Jianbin Zheng +14 more
openaire +2 more sources
Lentiviral vectors for gene therapy of Gaucher disease [PDF]
, 2015 Gaucher disease (GD), a recessive disorder characterised by hepatosplenomegaly, pancytopenia and skeletal complications, is caused by deficiency of the enzyme glucocerebrosidase (GC).
Aitchison, KL
core
Glucocerebrosidase deficits in sporadic Parkinson disease [PDF]
Autophagy, 2014 Parkinson disease (PD) is a progressive neurodegenerative movement disorder characterized pathologically by abnormal SNCA/α-synuclein protein inclusions in neurons. Impaired lysosomal autophagic degradation of cellular proteins is implicated in PD pathogenesis and progression.
Murphy, Karen E, Halliday, Glenda
openaire +3 more sources
Frontiers in Cellular Neuroscience, 2018 Intensive research efforts in the field of Parkinson’s disease (PD) are focusing on identifying reliable biomarkers which possibly help physicians in predicting disease onset, diagnosis, and progression as well as evaluating the response to disease ...
Silvia Cerri +9 more
doaj +1 more source
Longitudinal untargeted metabolomics of cognitive impairment in Parkinson's disease
Alzheimer's &Dementia, Volume 22, Issue 10, October 2026.Abstract INTRODUCTION Cognitive impairment is a common non‐motor symptom of Parkinson's disease (PD), yet the mechanism remains unclear. METHODS Longitudinal serum samples from PD patients in a community‐based case–control study were profiled, with cognition assessed by the Mini‐Mental State Examination at baseline and follow‐up.
Yuyuan Lin +11 more
wiley +1 more source