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GLA encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. Zusätzlich bieten wir Ihnen GLA Antikörper (127) und GLA Proteine (18) und viele weitere Produktgruppen zu diesem Protein an.
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we presented the clinical characters of a Chinese FD pedigree mimicking familial episodic pain. Furthermore, our finding suggests that a novel double mutation of GLA (c.273_276del TGAT in cis with c.281G>T) is associated with FD
Results showed that most Fabry disease patients carrying GLA IVS4+919A did not show abnormal cardiac phenotypes. The near-absence of GLA IVS4+919A in heart disease cohort suggested that this variant is not a frequent cause of overt heart diseases in Taiwan.
Enzyme activities (acid alpha-glucosidase (GAA), galactocerebrosidase (GALC (zeige GALC ELISA Kits)), glucocerebrosidase (GBA (zeige GBA ELISA Kits)), alpha-galactosidase A (GLA), alpha-iduronidase (IDUA (zeige IDUA ELISA Kits)) and sphingomyeline phosphodiesterase-1 (SMPD-1 (zeige SMPD1 ELISA Kits))) were measured on ~43,000 de-identified dried blood spot (DBS (zeige MCF2L ELISA Kits)) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk
This longitudinal Fabry Registry study analyzed data from patients with Fabry disease to determine the incidence and type of severe clinical events following initiation of enzyme replacement therapy (ERT) with agalsidase beta, as well as risk factors associated with occurrence of these events
alpha-galactosidase A mutation, IVS4-type Fabry disease has features similar to those of classic Fabry disease and a higher frequency of deep white matter hyperintensities and a higher incidence of infarctions and pulvinar signs than in healthy controls
We demonstrate that the wild-type sequence harbors an hnRNP A1 (zeige HNRNPA1 ELISA Kits) and hnRNP A2/B1 (zeige HNRNPA2B1 ELISA Kits)-binding exonic splicing silencer (ESS) overlapping the 5'splice site (5'ss) that prevents pseudoexon inclusion.we demonstrate that splice switching oligonucleotide (SSO) mediated blocking of the pseudoexon 3'ss and 5'ss effectively restores normal GLA splicing
Four patients had non-amenable mutant forms of a-Gal (zeige GAL ELISA Kits) based on the validated cell-based assay conducted after treatment initiation and were excluded from primary efficacy analyses only.
Mesenchymal stem cells with reduced GLA activity are prone to apoptosis and senescence due to impaired autophagy and DNA repair capacity.
we review the various types of GLA variants and recommend that pathogenicity be considered only when associated with elevated globotriaosylceramide in disease-relevant organs and tissues as analyzed by mass spectrometry.
findings revealed the alternative splicing mechanism of GLA (IVS4+919G>A), and a potential treatment for this specific genetic type of Fabry disease by amiloride in the future
Mice with alpha-galactosidase A deficiency show age-dependent and distinct deficits of the sensory system.
The histological changes in Gla KO mice better resemble the type 2 later-onset phenotype observed in patients with residual alpha-galactosidase A activity.
our findings imply that the alpha-GalA KO mouse is a good model in which to study the peripheral small fiber neuropathy exhibited by FD patients
we demonstrate an age-dependent microvasculopathy of the mesenteric artery in a murine model of Fabry disease (galactosidase A-knockout mice) resulting from dysregulation of the vascular homeostatic enzyme endothelial nitric oxide synthase (eNOS (zeige NOS3 ELISA Kits))
It suggested that there could be a combination of GLA deficiency and FVL (zeige F5 ELISA Kits) or other thrombosis-related gene defect in patients with genetic severe early-onset thrombosis.
present Toll (zeige TLR4 ELISA Kits)-like receptor-dependent negative regulation of alpha-Gal-A as a mechanistic link between pathogen recognition and self lipid antigen induction for natural killer T cells
Developed a novel recombinant lentiviral vector that engineers expression of alpha-galactosidase. Analysis of tissues at 26 wks demonstrated similar alpha-gal A enzyme activities but enhanced Gb3 reduction in hearts and kidneys compared with control.
alpha-galactosidase A deficiency could be an important genetic modifier for the enhanced thrombosis associated with FV Leiden associated thrombosis.
The adeno (zeige ADORA2A ELISA Kits)-associated virus (AAV) vector containing the alpha-gal A gene was injected into the right quadriceps muscles of Fabry knockout mice.
observations demonstrate a synergistic interaction between alpha-galactosidase A deficiency and Factor V Leiden (zeige F5 ELISA Kits) toward tissue fibrin deposition; concomitant mutations in these genes may increase the penetrance of vascular thrombotic events in humans
This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties.
, alpha-D-galactosidase A
, alpha-D-galactoside galactohydrolase 1
, alpha-gal A
, alpha-galactosidase A
, alpha-D-galactoside galactohydrolase
, Alpha-galactosidase A
, galactosidase, alpha
, alpha-galactosidase A-like