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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 Kits (37) und viele weitere Produktgruppen zu diesem Protein an.
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Human GLA Protein expressed in Wheat germ - ABIN1355176
Corchero, Mendoza, Lorenzo, Rodríguez-Sureda, Domínguez, Vázquez, Ferrer-Miralles, Villaverde: Integrated approach to produce a recombinant, His-tagged human ?-galactosidase A in mammalian cells. in Biotechnology progress 2011
Human GLA Protein expressed in Human Cells - ABIN2005026
Koide, Ishiura, Iwai, Inoue, Kaneda, Okada, Uchida: A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. in FEBS letters 1990
Show all 5 Pubmed References
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 Proteine) and hnRNP A2/B1 (zeige HNRNPA2B1 Proteine)-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 (zeige NAT8 Proteine) splicing
Four patients had non-amenable mutant forms of a-Gal (zeige GAL Proteine) 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 Proteine) activity are prone to apoptosis and senescence due to impaired autophagy and DNA repair capacity.
we review the various types of GLA (zeige NAT8 Proteine) 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 Proteine) (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 Proteine) 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 Proteine) 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 Proteine) 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 Proteine) gene were identified in this group of patients and thus no Fabry disease was found in this study.
the GM130 (zeige GOLGA2 Proteine)-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 Proteine) localization and expression patterns are regulated by FMNL1 (zeige FMNL1 Proteine).
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 Proteine))
GM130 (zeige GOLGA2 Proteine) regulates microtubule organization and might cooperate with the MAPK (zeige MAPK1 Proteine) 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 Proteine) or other thrombosis-related gene defect in patients with genetic severe early-onset thrombosis.
present Toll (zeige TLR4 Proteine)-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