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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 (129) und GLA Proteine (18) und viele weitere Produktgruppen zu diesem Protein an.
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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 (zeige NAT8 ELISA Kits) activity are prone to apoptosis and senescence due to impaired autophagy and DNA repair capacity.
we review the various types of GLA (zeige NAT8 ELISA Kits) 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 (zeige NAT8 ELISA Kits) (IVS4+919G>A), and a potential treatment for this specific genetic type of Fabry disease by amiloride in the future
Results found a novel heterozygous stop codon mutation in exon 1 of the GLA (zeige NAT8 ELISA Kits) gene in female patients with Fabry Disease with methylation in the non-mutated allele thought to be associated with the clinical severity of the disease.
Study described the demographic data, wide clinical spectrum of phenotypes, and GLA (zeige NAT8 ELISA Kits) mutation spectrum of Fabry disease in Korea. Most of the patients had classical Fabry disease, with a 4 times higher incidence than that of late-onset Fabry disease, indicating an underdiagnosis of mild, late-onset Fabry disease.
we reviewed other small molecules that were reported to have a stabilizing effect on some GLA (zeige NAT8 ELISA Kits) missense mutations in vitro and might be developed to act in synergy or as an alternative to 1-deoxygalactonojirimycin
No pathogenic mutations in the coding regions of the GLA (zeige NAT8 ELISA Kits) gene were identified in this group of patients and thus no Fabry disease was found in this study.
High desphospho-uncarboxylated matrix Gla protein (zeige MGP ELISA Kits) level, reflecting a poor vitamin K status, seems to be associated with kidney damage and may be also a marker of cardiovascular risk in CKD patients
Case Report: Kidney transplantation from a mother with unrecognized Fabry disease to her son with low alpha-galactosidase A activity.
the GM130 (zeige GOLGA2 ELISA Kits)-deficient mouse provides a valuable model for investigating the etiology of human globozoospermia.
Mice with alpha-galactosidase A deficiency show age-dependent and distinct deficits of the sensory system.
In oocyte meiosis, GM130 (zeige GOLGA2 ELISA Kits) localization and expression patterns are regulated by FMNL1 (zeige FMNL1 ELISA Kits).
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))
GM130 (zeige GOLGA2 ELISA Kits) regulates microtubule organization and might cooperate with the MAPK (zeige MAPK1 ELISA Kits) pathway to play roles in spindle organization, migration and asymmetric division during mouse oocyte maturation
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.
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
, 130 kDa cis-Golgi matrix protein
, Golgin subfamily A member 2
, SY11 protein