Use your antibodies-online credentials, if available.
Keine Produkte auf Ihrer Vergleichsliste.
Ihr Warenkorb ist leer.
Weitere Synonyme anzeigen
Wählen Sie die gewünschte Spezies
The POLG1 (zeige POLG Proteine) CAG repeat (zeige CELF3 Proteine) 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 (zeige DDIT3 Proteine) 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 (zeige APP Proteine) and Tau profiles in CSF (zeige CSF2 Proteine).
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.
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 (zeige UGCG Proteine))in the central nervous system (CNS)can affect alpha-synuclein processing and improve behavioral outcomes. Hence, inhibition of GCS (zeige UGCG Proteine) 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 Proteine).
Rab7 (zeige RAB7A Proteine) accumulated in GCase deficient cells, supporting the notion that lysosomal recycling is impaired. Since recombinant GCase can reverse ALR (zeige GFER Proteine) 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 (zeige SUCLA2 Proteine)-ChlGlc-synthesizing enzyme.
Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease.
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)