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Galactosidase, alpha

alpha-galactosidase A, alpha-Gal A, GALA, agalsidase
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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, CAN, AGE, ACID, fibrillin-1
Papers on alpha-galactosidase A
Carboxymethylation of polysaccharide from Cyclocarya paliurus and their characterization and antioxidant properties evaluation.
Xie et al., Nanchang, China. In Carbohydr Polym, Feb 2016
The carboxymethyl derivatives was mainly composed of Ara, Gal, Glc, Man, GalA, with a molecular weight (Mw) of 1.03-1.08×10(6)Da.
Gastrointestinal involvement in Fabry disease. So important, yet often neglected.
Schenone et al., Buenos Aires, Argentina. In Clin Genet, Jan 2016
Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal alpha-galactosidase A which causes accumulation of glycosphingolipids, primarily globotriaosylceramide, throughout the body.
A novel Zn2 Cys6 transcription factor BcGaaR regulates D-galacturonic acid utilization in Botrytis cinerea.
van Kan et al., Wageningen, Netherlands. In Mol Microbiol, Jan 2016
UNASSIGNED: D-galacturonic acid (GalA) is the most abundant monosaccharide component of pectin.
Musculoskeletal manifestations of Fabry disease: A retrospective study.
Ziza et al., Paris, France. In Joint Bone Spine, Jan 2016
OBJECTIVES: Fabry disease is a rare X-linked metabolic disorder characterized by a deficiency in the enzyme alpha-galactosidase A. Both males and females can be affected.
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.
Wanner et al., Birmingham, United States. In J Med Genet, Dec 2015
BACKGROUND: Nephropathy is an important feature of classical Fabry disease, which results in alpha-galactosidase A deficiency and cellular globotriaosylceramide accumulation.
[Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management].
Cecchi et al., Florence, Italy. In G Ital Cardiol (rome), Nov 2015
Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. It is characterized by a multisystemic involvement: the renal, neurological, heart, cochleovestibular and cutaneous systems are the most damaged.
Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease.
Lee et al., Seoul, South Korea. In J Hum Genet, Nov 2015
UNASSIGNED: Fabry disease (FD) is a rare X-linked recessive glycosphingolipid-storage disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Intravenous enzyme replacement therapy (ERT) has been used to supplement deficient enzyme activity in patients with FD.
Glatiramer Acetate 40 mg/mL in Relapsing-Remitting Multiple Sclerosis: A Review.
McKeage, Auckland, New Zealand. In Cns Drugs, May 2015
In the randomized, phase III GALA study in patients with relapsing-remitting MS (RRMS), glatiramer acetate 40 mg/mL three times weekly reduced annualized relapse rates significantly more than placebo, and indirect comparisons indicate that the efficacy of the three-times-weekly regimen is similar to that of the 20 mg/mL once-daily regimen.
Fabry disease and the heart.
Weidemann et al., Würzburg, Germany. In Best Pract Res Clin Endocrinol Metab, Mar 2015
Fabry disease is induced by a mutation in the alpha-galactosidase A gene, causing a deficiency of the enzyme alpha-galactosidase A. (1) The enzyme defect leads to progressive intracellular accumulation of globotriaosylceramide in lysosomes of various tissues and organs, including heart, kidney and nerve system.
Enzymes approved for human therapy: indications, mechanisms and adverse effects.
Baldo, Australia. In Biodrugs, Feb 2015
The introduction and regulatory approval of 20 different recombinant enzymes has enabled, often for the first time, effective enzyme-replacement therapy for some lysosomal storage disorders, including Gaucher (imiglucerase, taliglucerase, and velaglucerase), Fabry (agalsidase alfa and beta), and Pompe (alglucosidase alfa) diseases and mucopolysaccharidoses I (laronidase), II (idursulfase), IVA (elosulfase), and VI (galsulfase).
α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
Rousseau et al., Brussels, Belgium. In J Biol Chem, 2012
alpha-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants
A multifunctional envelope-type nanodevice for use in nanomedicine: concept and applications.
Harashima et al., Sapporo, Japan. In Acc Chem Res, 2012
Here we integrate the optimum biodistribution and intracellular trafficking of the MEND with an innovative strategy such as enzymatically cleavable PEG and a short membrane peptide, GALA.
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
Duro et al., Palermo, Italy. In Clin Biochem, 2012
Data inhicate that patients with alpha-galactosidase A (GLA) gene c.614delC mutation show classical clinical manifestations of Fabry disease (FD).
A quantitative-PCR protocol rapidly detects αGAL deletions/duplications in patients with Anderson-Fabry disease.
Intrieri et al., Campobasso, Italy. In Mol Genet Metab, 2012
Alpha Galactosidase A deletions/duplications are asssociated with Anderson-Fabry disease.
Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease.
Camici et al., Brussels, Belgium. In Plos One, 2011
Deregulation of key endothelial pathways as observed in Fabry disease vasculopathy is likely caused by intracellular Gb3 accumulation rather than deficiency of GLA
Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients.
Kohno et al., Nagasaki, Japan. In Ren Fail, 2011
The current definition of Fabry disease is a measured decrease or deficit of alpha-Gal A enzyme activity or the detection of any mutation of the alpha-Gal A gene.
Lysosomal alpha-galactosidase controls the generation of self lipid antigens for natural killer T cells.
Winau et al., Boston, United States. In Immunity, 2010
We hypothesized that constantly degraded endogenous antigen only accumulates upon inhibition of alpha-galactosidase A (alpha-Gal-A) in lysosomes.
The hunt for iNKT cell antigens: alpha-galactosidase-deficient mice to the rescue?
Joyce et al., Nashville, United States. In Immunity, 2010
In this issue of Immunity, Darmoise et al. (2010) report that lysosomal alpha-galactosidase A destroys self-antigens recognized by iNKT cells.
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data.
Fabry Outcome Survey investigators et al., London, United Kingdom. In Lancet, 2010
BACKGROUND: We analysed 5-year treatment with agalsidase alfa enzyme replacement therapy in patients with Fabry's disease who were enrolled in the Fabry Outcome Survey observational database (FOS).
Fabry's disease.
Hopkin et al., Cincinnati, United States. In Lancet, 2008
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in alpha-galactosidase A. The consequent abnormal accumulation of glycosphingolipids results in several clinical signs and symptoms and substantial morbidity and mortality.
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