| 1 |
34883387 | GBA mutations, glucosylceramide and Parkinson's disease. | 2022 Feb |
2 |
| 2 |
34897099 | Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial. | 2022 |
1 |
| 3 |
34993951 | Children with atopic dermatitis show increased activity of β-glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu. | 2022 Jun |
2 |
| 4 |
35065083 | The neuroinflammatory role of glucocerebrosidase in Parkinson's disease. | 2022 Apr 1 |
2 |
| 5 |
35101134 | LRRK2, GBA and their interaction in the regulation of autophagy: implications on therapeutics in Parkinson's disease. | 2022 Jan 31 |
1 |
| 6 |
35401150 | Glucocerebrosidase Mutations Cause Mitochondrial and Lysosomal Dysfunction in Parkinson's Disease: Pathogenesis and Therapeutic Implications. | 2022 |
5 |
| 7 |
35637196 | GBA1-dependent membrane glucosylceramide reprogramming promotes liver cancer metastasis via activation of the Wnt/β-catenin signalling pathway. | 2022 May 30 |
10 |
| 8 |
33219714 | The Role of Cholesterol in α-Synuclein and Lewy Body Pathology in GBA1 Parkinson's Disease. | 2021 May |
1 |
| 9 |
33342090 | Synthetic mRNA-based differentiation method enables early detection of Parkinson's phenotypes in neurons derived from Gaucher disease-induced pluripotent stem cells. | 2021 Apr |
3 |
| 10 |
33823526 | Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study. | 2021 |
2 |
| 11 |
34043191 | Measurement of GCase Activity in Cultured Cells. | 2021 |
1 |
| 12 |
34106956 | Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model. | 2021 |
2 |
| 13 |
34134921 | Gaucher Disease: Identification and Novel Variants in Mexican and Spanish Patients. | 2021 Oct |
1 |
| 14 |
34151863 | Gene Therapy for Parkinson's Disease Associated with GBA1 Mutations. | 2021 |
1 |
| 15 |
34213307 | Glucosylceramide Associated with Gaucher Disease Forms Amyloid-like Twisted Ribbon Fibrils That Induce α-Synuclein Aggregation. | 2021 Jul 2 |
2 |
| 16 |
34485083 | Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease. | 2021 Dec |
2 |
| 17 |
34622801 | Direct targeting of wild-type glucocerebrosidase by antipsychotic quetiapine improves pathogenic phenotypes in Parkinson's disease models. | 2021 Oct 8 |
1 |
| 18 |
34720832 | A Japanese Patient with Gaucher Disease Treated with the Oral Drug Eliglustat as Substrate Reducing Therapy. | 2021 Sep-Dec |
1 |
| 19 |
34760177 | Lipid-mimicking phosphorus-based glycosidase inactivators as pharmacological chaperones for the treatment of Gaucher's disease. | 2021 Oct 27 |
1 |
| 20 |
34811369 | Glucosylceramide in cerebrospinal fluid of patients with GBA-associated and idiopathic Parkinson's disease enrolled in PPMI. | 2021 Nov 22 |
5 |
| 21 |
31819005 | The Arabidopsis AtGCD3 protein is a glucosylceramidase that preferentially hydrolyzes long-acyl-chain glucosylceramides. | 2020 Jan 17 |
3 |
| 22 |
31931749 | Assessment of cellular cobalamin metabolism in Gaucher disease. | 2020 Jan 13 |
1 |
| 23 |
32172343 | Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export. | 2020 Jun |
2 |
| 24 |
32191378 | Imino- and Azasugar Protonation Inside Human Acid β-Glucosidase, the Enzyme that is Defective in Gaucher Disease. | 2020 Jun 22 |
1 |
| 25 |
32946792 | Glucosylated cholesterol in skin: Synthetic role of extracellular glucocerebrosidase. | 2020 Nov |
2 |
| 26 |
33163670 | Enzyme kinetics and inhibition parameters of human leukocyte glucosylceramidase. | 2020 Nov |
1 |
| 27 |
33261081 | Effect of Expression of Human Glucosylceramidase 2 Isoforms on Lipid Profiles in COS-7 Cells. | 2020 Nov 27 |
1 |
| 28 |
30315684 | Neurological effects of glucocerebrosidase gene mutations. | 2019 Mar |
1 |
| 29 |
30578288 | Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells. | 2019 Jan 25 |
1 |
| 30 |
30627514 | Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening. | 2019 Mar |
1 |
| 31 |
30895685 | Localization of active endogenous and exogenous β-glucocerebrosidase by correlative light-electron microscopy in human fibroblasts. | 2019 May |
3 |
| 32 |
31333408 | Lipids as Trans-Acting Effectors for α-Synuclein in the Pathogenesis of Parkinson's Disease. | 2019 |
1 |
| 33 |
31363476 | Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report. | 2019 Jun 26 |
2 |
| 34 |
29272250 | Changes of the peripheral blood mononuclear cells membrane fluidity from type 1 Gaucher disease patients: an electron paramagnetic resonance study. | 2018 Apr 25 |
1 |
| 35 |
29305919 | Pathological role of lipid interaction with α-synuclein in Parkinson's disease. | 2018 Oct |
6 |
| 36 |
29385658 | The role of glucocerebrosidase in Parkinson disease pathogenesis. | 2018 Oct |
1 |
| 37 |
29530534 | Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight. | 2018 Apr |
2 |
| 38 |
29579237 | Acid ceramidase inhibition ameliorates α-synuclein accumulation upon loss of GBA1 function. | 2018 Jun 1 |
2 |
| 39 |
29699937 | Molecular regulations and therapeutic targets of Gaucher disease. | 2018 Jun |
1 |
| 40 |
29934064 | Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease. | 2018 Aug |
1 |
| 41 |
30023299 | Genetic and clinical characteristics of Filipino patients with Gaucher disease. | 2018 Jun |
2 |
| 42 |
30099023 | Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease. | 2018 Dec 15 |
1 |
| 43 |
30461613 | Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report. | 2018 Nov |
1 |
| 44 |
27955980 | The metabolism of glucocerebrosides - From 1965 to the present. | 2017 Jan - Feb |
3 |
| 45 |
28126847 | Lipids regulate the hydrolysis of membrane bound glucosylceramide by lysosomal β-glucocerebrosidase. | 2017 Mar |
5 |
| 46 |
28144704 | Gaucher disease in the liver on hepatocyte specific contrast agent enhanced MR imaging. | 2017 Apr |
1 |
| 47 |
28166796 | Coenzyme Q10 partially restores pathological alterations in a macrophage model of Gaucher disease. | 2017 Feb 6 |
2 |
| 48 |
28258214 | Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease. | 2017 Apr 14 |
2 |
| 49 |
28574511 | Signalome-wide RNAi screen identifies GBA1 as a positive mediator of autophagic cell death. | 2017 Jul |
1 |
| 50 |
28812093 | A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response. | 2017 Sep 8 |
2 |