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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…
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Keywords:
bicarbonate containing;
gcase;
medium;
hepes buffering ... See more keywords
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Published in 2020 at "EBioMedicine"
DOI: 10.1016/j.ebiom.2020.102735
Abstract: Background Enzyme replacement therapy (ERT) can positively affect the visceral manifestations of lysosomal storage diseases (LSDs). However, the exclusion of the intravenous ERT agents from the central nervous system (CNS) prevents direct therapeutic effects. Methods…
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Keywords:
gcase;
cns;
sapc dops;
blood ... See more keywords
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Published in 2017 at "Stem Cell Reports"
DOI: 10.1016/j.stemcr.2017.10.029
Abstract: Summary Gaucher’s disease (GD) is an autosomal recessive disorder caused by mutations in the GBA1 gene, which encodes acid β-glucocerebrosidase (GCase). Severe GBA1 mutations cause neuropathology that manifests soon after birth, suggesting that GCase deficiency…
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Keywords:
gcase;
gaucher disease;
wnt catenin;
downregulation ... See more keywords
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Published in 2022 at "Expert Opinion on Therapeutic Targets"
DOI: 10.1080/14728222.2022.2166828
Abstract: The clearance of damaged and unwanted proteins is essential for maintaining cellular homeostasis [1]. The two main mechanisms for the degradation of misfolded or aggregated proteins within the cell are the ubiquitin-proteasome system (UPS) and…
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Keywords:
clearance;
gcase;
parkinson disease;
clearance pathways ... See more keywords
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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…
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Keywords:
cathepsin;
gcase;
ceramides regulate;
lysosomal ceramides ... See more keywords
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Published in 2019 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz005
Abstract: Gaucher disease (GD) patients and carriers of GD mutations have a higher propensity to develop Parkinson's disease (PD) in comparison to the non-GD population. This implies that mutant GBA1 allele is a predisposing factor for…
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Keywords:
accumulation aggregation;
synuclein;
mutant gcase;
aggregation synuclein ... See more keywords
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Published in 2022 at "Translational Neurodegeneration"
DOI: 10.1186/s40035-022-00281-6
Abstract: Mutations in leucine-rich repeat kinase 2 ( LRRK2 ) and glucocerebrosidase ( GBA ) represent two most common genetic causes of Parkinson’s disease (PD). Both genes are important in the autophagic-lysosomal pathway (ALP), defects of…
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Keywords:
gcase;
kinase;
disease;
lrrk2 gba ... See more keywords
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Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201575
Abstract: For a long time, there has been a recognized link between GBA gene sequence variants and risk of Parkinson disease (PD). In fact, Neurology® published an editorial 14 years ago by Rogaeva and Hardy1 on…
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Keywords:
neurology;
gcase;
parkinson disease;
activity ... See more keywords
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Published in 2018 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms19071972
Abstract: Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase (GCase). Currently, enzyme-replacement therapy using recombinant GCase produced in mammalian cells is considered the most effective treatment. Plants are an attractive alternative host for…
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Keywords:
root culture;
production;
gcase;
recombinant gcase ... See more keywords
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Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24032044
Abstract: α-Synucleinopathies comprise a group of neurodegenerative diseases characterized by altered accumulation of a protein called α-synuclein inside neurons and glial cells. This aggregation leads to the formation of intraneuronal inclusions, Lewy bodies, that constitute the…
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Keywords:
gene mutations;
gcase;
pathology;
mutations synucleinopathies ... See more keywords