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GLA encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins.
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The results of the current study suggest that the GLA (show NAT8 Antibodies) haplotype D313Y does not lead to severe organ manifestations as seen in genotypes known to be causal for classical Fabry disease.
Case Report: hypertrophic obstructive cardiomyopathy with Fabry disease with the GLA (show NAT8 Antibodies) E66Q mutation.
We conclude that a mild GLA (show NAT8 Antibodies) variant is typically characterized by high residual enzyme activity and normal biomarker levels. We found evidence that these variants can still be classified as a distinctive, but milder, sub-type of FD.
Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA (show NAT8 Antibodies) gene that codes for alpha-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy.
Study describes 5 novel mutations found in the GLA (show NAT8 Antibodies) gene of patients with clinical diagnosis of Fabry disease.
GLA (show NAT8 Antibodies) gene variations correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma
results directly implicated the GLA (show NAT8 Antibodies) mutation p.E66Q as the genetic etiology of the Chinese renal variant FD pedigree.
This study indicated that the p.E66Q variant of GLA (show NAT8 Antibodies) does not affect the progression of chronic kidney disease.
Thus, inheritance of the CIH caused an mRNA deregulation altering the GLA (show NAT8 Antibodies) expression pattern, producing a tissue glycolipid storage.
data strongly suggest that the GLA (show NAT8 Antibodies) p.(Arg118Cys) variant does not segregate with Fabry disease clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease
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