HEPES‐buffering of bicarbonate‐containing culture medium perturbs lysosomal glucocerebrosidase activity
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular Biochemistry"
DOI: 10.1002/jcb.30234
Abstract: Glucocerebrosidase (GCase), encoded by the GBA gene, degrades the ubiquitous glycosphingolipid glucosylceramide. Inherited GCase deficiency causes Gaucher disease (GD). In addition, carriers of an abnormal GBA allele are at increased risk for Parkinson's disease. GCase… read more here.
Keywords: bicarbonate containing; gcase; medium; hepes buffering ... See more keywords
Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders"
DOI: 10.1002/mds.28200
Abstract: Homozygous glucocerebrosidase mutations cause Gaucher disease, whereas heterozygous mutations are the most important genetic risk factor for Parkinson's disease (PD). The penetrance of heterozygous glucocerebrosidase mutations for PD is variable (10%–30%), depends on the population… read more here.
Keywords: penetrance glucocerebrosidase; glucocerebrosidase; study; disease ... See more keywords
Reply to: “Differences in Sex‐Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism”
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders"
DOI: 10.1002/mds.29351
Abstract: We read with great interest the recently published article by Ortega et al reporting sex-specific differences of glucocerebrosidase (GBA) gene mutation frequencies in carriers with Parkinson’s disease (GBA-PD) of Ashkenazi Jewish ancestry. They observed unequal… read more here.
Keywords: gba; frequency; sex specific; gba variants ... See more keywords
Consequences of excessive glucosylsphingosine in glucocerebrosidase-deficient zebrafish.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of lipid research"
DOI: 10.1016/j.jlr.2022.100199
Abstract: In Gaucher disease (GD), the deficiency of glucocerebrosidase (GCase/ GBA1) causes lysosomal accumulation of glucosylceramide (GlcCer), which is partly converted by acid ceramidase (ACase) to glucosylsphingosine (GlcSph) in the lysosome. Chronically elevated blood and tissue… read more here.
Keywords: glcsph; deficient zebrafish; glucocerebrosidase deficient; excessive glcsph ... See more keywords
GBA RNAi but not catalytic inhibition of glucocerebrosidase with Conduritol-β-epoxide increases levels of total α-synuclein in SH-SY5Y cells
Sign Up to like & getrecommendations! Published in 2019 at "Neuroscience Letters"
DOI: 10.1016/j.neulet.2019.05.027
Abstract: Mutations in the glucocerebrosidase gene are a common genetic risk factor for developing Parkinson's disease. The reasons why glucocerebrosidase mutations cause an increased life-time risk of developing Parkinson's disease are not fully understood. Here, we… read more here.
Keywords: glucocerebrosidase; total synuclein; conduritol epoxide; catalytic inhibition ... See more keywords
Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2018.11.004
Abstract: In 2014 [1], we shared our experience on breastfeeding and enzyme replacement therapy (ERT) with imiglucerase in Gaucher disease (GD). Our results were in accordance with Sekijima et al. [2], and showed that activity of… read more here.
Keywords: glucocerebrosidase; taliglucerase alfa; breast milk;
Glucocerebrosidase as a therapeutic target for Parkinson’s disease
Sign Up to like & getrecommendations! Published in 2020 at "Expert Opinion on Therapeutic Targets"
DOI: 10.1080/14728222.2020.1733970
Abstract: ABSTRACT Introduction: The association between Gaucher disease, caused by the inherited deficiency of glucocerebrosidase, and Parkinson’s disease was first recognized in the clinic, noting that patients with Gaucher disease and their carrier relatives had an… read more here.
Keywords: glucocerebrosidase; disease; parkinson disease; brain ... See more keywords
Lysosomal ceramides regulate Cathepsin B-mediated processing of saposin C and glucocerebrosidase activity.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac047
Abstract: Variants in multiple lysosomal enzymes increase Parkinson's disease risk, including the genes encoding glucocerebrosidase (GCase), acid sphingomyelinase and galactosylceramidase. Each of these enzymes generate ceramide by hydrolysis of sphingolipids in lysosomes, but the role of… read more here.
Keywords: cathepsin; gcase; ceramides regulate; lysosomal ceramides ... See more keywords
A randomized single and multiple ascending dose study in healthy volunteers of LTI‐291, a centrally penetrant glucocerebrosidase activator
Sign Up to like & getrecommendations! Published in 2021 at "British Journal of Clinical Pharmacology"
DOI: 10.1111/bcp.14772
Abstract: 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. LTI‐291 is an allosteric… read more here.
Keywords: randomized single; glucocerebrosidase; single multiple; lti 291 ... See more keywords
Inhibition of microglial β-glucocerebrosidase hampers the microglia-mediated antioxidant and protective response in neurons
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neuroinflammation"
DOI: 10.1186/s12974-021-02272-2
Abstract: Background Homozygotic mutations in the GBA gene cause Gaucher’s disease; moreover, both patients and heterozygotic carriers have been associated with 20- to 30-fold increased risk of developing Parkinson’s disease. In homozygosis, these mutations impair the… read more here.
Keywords: inhibition microglial; response; glucocerebrosidase; brain ... See more keywords
Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neuropathologica Communications"
DOI: 10.1186/s40478-019-0872-6
Abstract: Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation carriers. Progranulin haploinsufficiency… read more here.
Keywords: frontotemporal dementia; glucocerebrosidase activity; grn; glucocerebrosidase ... See more keywords