anti-Gla Gene Product (GLA) Anticorps

GLA encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins.

afficher tous les anticorps Gène GeneID UniProt
Anti-Humain GLA GLA 2717 P06280
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Plus d’anticorps contre GLA partenaires d’interaction

Human Gla Gene Product (GLA) interaction partners

  1. Mesenchymal stem cells with reduced GLA (Montrer NAT8 Anticorps) activity are prone to apoptosis and senescence due to impaired autophagy and DNA repair capacity.

  2. we review the various types of GLA (Montrer NAT8 Anticorps) variants and recommend that pathogenicity be considered only when associated with elevated globotriaosylceramide in disease-relevant organs and tissues as analyzed by mass spectrometry.

  3. findings revealed the alternative splicing mechanism of GLA (Montrer NAT8 Anticorps) (IVS4+919G>A), and a potential treatment for this specific genetic type of Fabry disease by amiloride in the future

  4. Results found a novel heterozygous stop codon mutation in exon 1 of the GLA (Montrer NAT8 Anticorps) 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.

  5. Study described the demographic data, wide clinical spectrum of phenotypes, and GLA (Montrer NAT8 Anticorps) 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.

  6. we reviewed other small molecules that were reported to have a stabilizing effect on some GLA (Montrer NAT8 Anticorps) missense mutations in vitro and might be developed to act in synergy or as an alternative to 1-deoxygalactonojirimycin

  7. No pathogenic mutations in the coding regions of the GLA (Montrer NAT8 Anticorps) gene were identified in this group of patients and thus no Fabry disease was found in this study.

  8. High desphospho-uncarboxylated matrix Gla protein (Montrer MGP Anticorps) 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

  9. Case Report: Kidney transplantation from a mother with unrecognized Fabry disease to her son with low alpha-galactosidase A activity.

  10. p.M187R GLA (Montrer NAT8 Anticorps) mutation in Fabry disease causes a severe systemic and ophthalmologic phenotype, in both male and female patients.

GLA profil antigène

Profil protéine

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.

Gene names and symbols associated with anti-Gla Gene Product (GLA) Anticorps

  • galactosidase, alpha (GLA) anticorps
  • GALA anticorps

Protein level used designations for anti-Gla Gene Product (GLA) Anticorps

agalsidase alfa , alpha-D-galactosidase A , alpha-D-galactoside galactohydrolase 1 , alpha-gal A , alpha-galactosidase A , melibiase

2717 Homo sapiens
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