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GBA mutations are also an important risk factor for DLB development in the Spanish population, are associated with earlier disease onset, and are more prevalent in men.
Enzyme activities (acid alpha-glucosidase (GAA), galactocerebrosidase (GALC (show GALC ELISA Kits)), glucocerebrosidase (GBA), alpha-galactosidase A (GLA (show GLA ELISA Kits)), alpha-iduronidase (IDUA (show IDUA ELISA Kits)) and sphingomyeline phosphodiesterase-1 (SMPD-1 (show SMPD1 ELISA Kits))) were measured on ~43,000 de-identified dried blood spot (DBS (show MCF2L ELISA Kits)) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk
These results demonstrate the diagnostic usefulness of MLPA in the detection of GBA deletions and recombinations
A novel function for glucocerebrosidase as a regulator of sterylglucoside metabolism has been summarized. (Review)
Mutant GBA proteins cause increases in alpha-synuclein levels, while an inhibition of GBA by alpha-synuclein has been also demonstrated in Gaucher disease patients with Parkinson disease. (Review)
GBA mutations as risk factors for PD and point to lysosomal dysfunction as a mechanism contributing to PD etiology.
Parkinson patient who carry mutations in the GBA gene demonstrates more significant cognitive decline compared to idiopathic parkinson patients.
Mesenchymal stem cells with reduced GBA activity are prone to apoptosis and senescence due to impaired autophagy and DNA repair capacity.
Local lysosomal conditions may be even more critical for some mutant lysosomal hydrolases, e.g. for mutant GBA1 . In Niemann-Pick disease type C disease, characterized by the cholesterol primary storage, GlcCer secondary accumulation could be triggered by SM secondary accumulation.
the GBA1 gene, its role in Gaucher disease, and its link with Parkinson disease (Review)
Results describe the characterization of a beta-glucosidase homolog from Arabidopsis thaliana.
These results indicate that Gba1 deficiency enhances neuronal vulnerability to neurodegenerative processes triggered by increased alpha-synuclein expression.
This study demonstrated that the gba1 deficiency mice showed gene regulation expression of the type I interferon (show IFNA ELISA Kits).
Rab7 (show RAB7A ELISA Kits) accumulated in GCase deficient cells, supporting the notion that lysosomal recycling is impaired. Since recombinant GCase can reverse ALR (show GFER ELISA Kits) impairment, we anticipate that strategies to restore GCase activity in the brains of both sporadic patients with PD and those with GBA1 mutations will improve autophagy lysosomal pathway, preventing the accumulation of a-synuclein and spread of pathology.
In LIMP-2-deficient brains a significant reduction in GC activity led to lipid storage, disturbed autophagic/lysosomal function, and alpha-synuclein accumulation.
heterozygosity for a Gaucher disease-associated mutation in glucocerebrosidase interferes with alpha-synuclein degradation and contributes to its accumulation
Data indicate that ABC transporter A family member 12 knockout (Abca12 (show ABCA12 ELISA Kits)(-/-)) epidermis had 5-fold more beta-glucocerebrosidase (GCase) protein, and a 5-fold increase in GCase activity.
These results demonstrate, for the first time, a novel function of GBA1 as a beta (show SUCLA2 ELISA Kits)-ChlGlc-synthesizing enzyme.
Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease.
GBA1 and GBA2 (show GBA2 ELISA Kits) activities had characteristic differences between the studied fibroblast, liver and brain samples.
results not only point to a fundamental role for GBA in immune regulation but also suggest that GBA mutations in GD may cause widespread immune dysregulation through the accumulation of substrates
genetic analysis and mapping of the porcine glucocerebrosidase (GBA) gene
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants.
, acid beta-glucosidase
, lysosomal glucocerebrosidase
, acid beta glucosidase
, glucosidase, beta; acid
, glucosidase, beta, acid
, glucosidase, beta; acid (includes glucosylceramidase)