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Human Monoclonal GBA Primary Antibody for IF, IHC (p) - ABIN561009
Campeau, Rafei, Boivin, Sun, Grabowski, Galipeau: Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. in Blood 2009
Show all 5 Pubmed References
Human Polyclonal GBA Primary Antibody for 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
Chinese type 2 Gaucher disease patients have a similar phenotype to other ethnic groups and have a high prevalence of the c.1448T>C (p.Leu483Pro) mutation and recombination alleles.
The binding affinities of a-1-C-alkyl 1,4-dideoxy-1,4-imino-d-arabinitol (DAB) derivatives, which act as pharmacological chaperones for beta-glucocerebrosidase, abruptly increased upon elongation of their alkyl chain. In this study, the primary causes of such an increase in binding affinity were analyzed using proteinligand docking and molecular dynamics simulations.
The POLG1 CAG repeat length variation and the GBA p.L444P variant are associated with Parkinson's disease in the Finnish population
that GBA variant E326K may fully account for the primary association signal observed at chromosome 1q22 in previous GWAS of PD
lipid dyshomeostasis by GBA1 deficiency leads to decreased alpha-synuclein tetramers and increased alpha-synuclein monomers, which may provide the building blocks for phospho-Ser129-positive aggregates in GBA1-Parkinson's disease induced pluripotent stem cell-derived dopaminergic neurons
This study found that 10/13 Parkinson's disease parents had a severe mutation and only 3/10 carried a mild mutation (binomial test P < 0.05). Using an unbiased methodology, this study showed that carriers of severe GBA mutations are at higher risk for Parkinson's disease relative to carriers of the mild mutations.
The mutation spectrum of GBA exhibits ethnic and regional disparity in Asian patients. L444P was the most frequent mutation accounted for 47.7% in southern Chinese patients. The L444P homozygote genotype was associated with severe type 1 Gaucher disease.
These results indicated activation of Unfolded Protein Response (UPR) in different cell types derived from Gaucher disease patients, highlighting the generality of this process in this disease. They also showed that the UPR-regulated CHOP transcription factor induces transcription of the GBA1 gene.
The aims in the present study were to validate the P338-X1 GBA kit (MRC-Holland) for Multiplex Ligation-dependent Probe Amplification (MLPA) and to detect large deletions and/or duplications in GBA1 in Gaucher disease (GD) patients from Southern Brazil. Although larger deletions/duplications do not appear to be frequent in GD, the P338-X1 GBA kit for MLPA appears to be a good method for GBA1 analysis.
The data of this study suggested that the prominent cognitive impairment in Glucocerebrosidase (GBA)-associated Parkinson disease seems not primarily associated with specific Abeta and Tau profiles in CSF.
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.
Thus, while the underlying mechanism is not clear, this model shows that gba deficiency impacts the age of onset and disease duration in aged SNCA(A53T) mice, providing a valuable resource to identify modifiers, pathways and possible moonlighting roles of glucocerebrosidase in Parkinson pathogenesis.
The data support the contention that prolonged antagonism of glucosylceramide synthase (GCS)in the central nervous system (CNS)can affect alpha-synuclein processing and improve behavioral outcomes. Hence, inhibition of GCS 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.
Rab7 accumulated in GCase deficient cells, supporting the notion that lysosomal recycling is impaired. Since recombinant GCase can reverse ALR 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(-/-)) 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-ChlGlc-synthesizing enzyme.
Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease.
GBA1 and GBA2 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
This study suggested that several leads connecting GBA1 mutations with alpha-synuclein misprocessing have emerged as potential targets for the treatment of GBA1-related synucleinopathies.
IFG stabilizes GCase in tissues and serum and can reduce visceral substrates in vivo.
Mutations in GBA1 can cause Parkinson disease-like alpha-synuclein pathology; rescuing brain glucocerebrosidase activity might represent a therapeutic strategy for GBA1-associated synucleinopathies.
evidence for the involvement of deletion of the GBA1 gene in multiple cell lineages in nonneuronopathic type 1 Gaucher disease
The saposin C deficient mice backcrossed to point mutated GCase mimics the central nervous system phenotype and biochemistry of some type 3 (neuronopathic) variants of Gaucher disease.
isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
Saposin C has multiple roles in glycosphingolipid catabolism and functions in Central Nervous System independent of its role as an stabilizer of GCase.
mRNA shows generalized low level expression early in gestation with gradual appearance of differential expression appearing around gestational age E14 and significantly increasing at term and into adulthood.
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)