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Human Polyclonal GBA Primary Antibody für ICC, IF - ABIN442242
Zancan, Bellesso, Costa, Salvalaio, Stroppiano, Hammond, Argenton, Filocamo, Moro: Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling. in Human molecular genetics 2015
This study demonstrated that GBA status appears to be an important predictor for non-motor symptom disease progression, after deep brain stimulation surgery.
The results of this study support a connection between the loss of beta-glucocerebrosidase-1 function, cholesterol accumulation, and the disruption of cellular homeostasis in GBA1-PD.
comparative analysis of motor and non-motor features in LRRK2 and GBA mutation carriers and non-carriers conducted in a cohort from Brazil, a country with a highly miscegenated population. Similarly to other studies, our results suggest that mutations in GBA and LRRK2 influence the clinical signs of the Parkinson's disease, with significant implications for handling of specific patient groups.
This study showed that Lysosomal defects GBA associated familial Parkinson's disease.
In longitudinally assessed, autopsied Parkinson disease cases, those with GBA mutations had a younger age at death but there was no evidence for clinical or neuropathological differences compared to cases without GBA mutations.
Low Glucosylceramidase serum levels are associated with Gaucher disease.
these findings highlight the critical role of GBA1 in mediating enhanced self-consumption of intracellular components and endomembranes, leading to autophagic cell death.
examined the effect of heterozygous mutation status on 736 community-dwelling older adults without dementia or Parkinson's disease over an average of 6 years, 28 of whom had a single GBA mutation (primarily N370S); carriers showed greater decline in verbal memory over time;results suggest an effect, but an overall limited burden, of harboring a single GBA mutation in aging mutation carriers
"dose effect" of mutations in the GBA gene on Parkinson's disease phenotype; severity of Parkinson's disease phenotype is related to the burden of GBA mutations with Gaucher disease-Parkinson's disease patients manifesting a more severe phenotype
This study shown GBA genetic variants for Parkinson's disease are associated with the risk of incident Parkinson's disease in the general population and with impairment in daily functioning in individuals without clinical parkinsonism.
Results describe the characterization of a beta-glucosidase homolog from Arabidopsis thaliana.
The data support the contention that prolonged antagonism of glucosylceramide synthase (GCS (zeige UGCG Antikörper))in the central nervous system (CNS)can affect alpha-synuclein processing and improve behavioral outcomes. Hence, inhibition of GCS (zeige UGCG Antikörper) represents a disease-modifying therapeutic strategy for GBA-related synucleinopathies and conceivably for certain forms of sporadic disease
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 (zeige IFNA Antikörper).
Rab7 (zeige RAB7A Antikörper) accumulated in GCase deficient cells, supporting the notion that lysosomal recycling is impaired. Since recombinant GCase can reverse ALR (zeige GFER Antikörper) 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 (zeige ABCA12 Antikörper)(-/-)) 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 (zeige SUCLA2 Antikörper)-ChlGlc-synthesizing enzyme.
Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease.
GBA1 and GBA2 (zeige GBA2 Antikörper) activities had characteristic differences between the studied fibroblast, liver and brain samples.
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)