Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation
Journal of Inborn Errors of Metabolism and Screening, 2014 Fabry disease (FD) is an inborn error of metabolism characterized by deficient/absent activity of lysosomal enzyme alpha-galactosidase A, which results in systemic accumulation of glycosphingolipids and progression to renal failure, heart and ...
Nilton Salles Rosa Neto MD, PhD
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Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. [PDF]
Orphanet J Rare Dis, 2016 Background Fabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma. Methods To determine the clinical impact of the alpha-Galactosidase A (GLA) p.A143T/ c.427G > A variation, we retrospectively analyzed 25 p.A143T patients in ...
Lenders M +12 more
europepmc +5 more sources
Exploring the impact of 1-deoxynojirimycin on alpha-galactosidase activity and chickpea seed germination through in vitro experiments and molecular docking analysis [PDF]
Journal of Seed Science, 2023 : Seed germination is a tightly regulated physiological process. Hydrolytic enzymes provide energy that brings physiological, biochemical, and physical changes to the seed during germination.
Krishnamoorthy Vengatesh Prasanna +3 more
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Phylogenomic study of Burkholderia glathei-like organisms, proposal of 13 novel Burkholderia species and emended descriptions of Burkholderia sordidicola, Burkholderia zhejiangensis, and Burkholderia grimmiae [PDF]
, 2016 Partial gyrB gene sequence analysis of 17 isolates from human and environmental sources revealed 13 clusters of strains and identified them as Burkholderia glathei Glade (BGC) bacteria.
Cooper, Vaughn S +5 more
core +6 more sources
Lentivirus-mediated gene therapy for Fabry disease
Nature Communications, 2021 Treatments for Fabry disease, an inherited lysosomal disorder caused by the deficiency of the enzyme alpha-galactosidase A, are not fully efficacious.
Aneal Khan +23 more
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Alpha-galactosidase production and use in a hollow-fiber reactor [PDF]
Applied and Environmental Microbiology, 1976 Soybean milk serves as a base for a variety of beverages designed for consumption in developing countries. Soybean flour contains raffinose and stachyose considered to be responsible for flatulence often associated with these products (J.J. Rackis, D.H. Honig, D.J. Sessa, and F.R. Steggerda, 1970).
K L, Smiley, D E, Hensley, H J, Gasdorf
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Journal of Inborn Errors of Metabolism and Screening, 2022 Fabry disease is a metabolic alteration linked to an enzymatic deficiency of Alpha-Galactosidase A, this disorder compromises the sphingolipid metabolism, leading to an accumulation of lysosomal globotriaosylceramide and is inherited in an X-linked ...
Jesus Alfredo Uribe-Ardila +1 more
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Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone [PDF]
Pharmacogenetics and Genomics, 2008 To examine the relationship between types and locations of mutations of the enzyme alpha-galactosidase (Gal) A in Fabry disease and the response to the pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).T cells grown from normal individuals or from patients with Fabry disease were tested for response to treatment with DGJ by increased activity ...
Sang H, Shin +7 more
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Архивъ внутренней медицины, 2013 This article is an analysis of the clinical case of differential diagnosis of Fabry disease. Pecular symptoms and the principles of diagnosis of Fabry disease, as well as current treatment options for this disease are presented.
Г. П. Арутюнов +1 more
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Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase [PDF]
Analytical and Bioanalytical Chemistry, 2009 Alpha-galactosidase A hydrolyzes the terminal alpha-galactosyl moieties from glycolipids and glycoproteins in lysosomes. Mutations in alpha-galactosidase cause lysosomal accumulation of the glycosphingolipid, globotriaosylceramide, which leads to Fabry disease.
Zhen-Dan, Shi +8 more
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