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GLA encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins.
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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
In Fabry disease patients, the alpha-galactosidase A-10T allele appears to be causal for neurological manifestations.
Some clinical cases of some members of a Sicilian family to express phenotypical variability of Anderson-Fabry disease in subjects with the same genetic mutation in alpha galactosidase A gene, are reported.
Case Report: immunohistologically detected synaptopodin (show SYNPO Antibodies) upregulation in foamy podocytes in Fabry disease due to novel alpha-galactosidase A mutation.
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