Results 281 to 290 of about 286,880 (314)
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Structure-function relationships in alpha-galactosidase A.
Acta paediatrica (Oslo, Norway : 1992), 2007With recent interest in the molecular mechanisms responsible for Fabry disease, the number of known mutations in the GLA gene which encodes alpha-galactosidase A has expanded considerably. Combining a large database of Fabry disease-causing mutations with the recently determined crystal structure of human alpha-galactosidase A allows for a new ...
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alpha-galactosidase A from human placenta. Stability and subunit size.
Biochimica et biophysica acta, 1977alpha-Galactosidase A (alpha-D-galactoside galactohydrolase, EC 3.2.1.22) was purified from human placenta. The purified enzyme showed one major band on polyacrylamide gel electrophoresis and a single precipitin line on double immunodiffusion. Electrophoresis of the purified, S-carboxymethylated enzyme on sodium dodecyl sulfate polyacrylamide gel ...
J S, Mayes, E, Beutler
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Clinica Chimica Acta, 2015
Due to the importance and the difficulty still present in determining the biochemical diagnosis of Fabry disease (FD), the aim of this study was to establish and compare the biochemical and kinetic properties of alpha-galactosidase A (GLA) in dried blood spots (DBS), plasma and leukocyte samples of FD patients and healthy subjects to evaluate the ...
Vanessa Vitcoski, Daitx +5 more
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Due to the importance and the difficulty still present in determining the biochemical diagnosis of Fabry disease (FD), the aim of this study was to establish and compare the biochemical and kinetic properties of alpha-galactosidase A (GLA) in dried blood spots (DBS), plasma and leukocyte samples of FD patients and healthy subjects to evaluate the ...
Vanessa Vitcoski, Daitx +5 more
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ALPHA-GALACTOSIDASE A DEFICIENCY AMONG TURKISH MALE HEMODIALYSIS PATIENTS
2019WOS ...
Ucar, S. Kalkan +4 more
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[Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations].
Journal de la Societe de biologie, 2002Fabry disease (FD, OMIM 301500) is an X-linked inherited disorder of metabolism due to mutations in the gene encoding alpha-galactosidase A, a lysosomal enzyme. The enzymatic defect leads to the accumulation of neutral glycosphingolipids throughout the body, particularly within endothelial cells.
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Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
Ideggyogyaszati szemle, 2012AIM was to detect the mutations of alpha-galactosidase A gene in two Hungarian Fabry patients.Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the alpha-galactosidase A gene.Case 1. (19 y.
Aranka, László +7 more
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Journal de la Societe de biologie, 2002
Fabry disease (FD, OMIM 301500) is an X-linked inherited disorder of metabolism due to mutations in the gene encoding alpha-galactosidase A, a lysosomal enzyme. The enzymatic defect leads to the accumulation of neutral glycosphingolipids throughout the body, particularly within endothelial cells.
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Fabry disease (FD, OMIM 301500) is an X-linked inherited disorder of metabolism due to mutations in the gene encoding alpha-galactosidase A, a lysosomal enzyme. The enzymatic defect leads to the accumulation of neutral glycosphingolipids throughout the body, particularly within endothelial cells.
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Alpha-galactosidase a from human placenta
Biochimica et Biophysica Acta (BBA) - Enzymology, 1977Jary S. Mayes, Ernest Beutler
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Proteins: Structure, Function, and Bioinformatics, 2015
C. Riera +6 more
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C. Riera +6 more
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Structural and Mechanistic Studies of alpha-galactosidase A and Pharmacological Chaperones
2010Human α-galactosidase (α-GAL; EC 3.2.1.22) is a lysosomal enzyme that hydrolyzes of terminal alpha-linked galactosyl residue of glycosphingolipids. Deficiencies in α-GAL leads to Fabry disease, which is characterized by the build-up of globotriaosylceramide and other neutral substrates in cells, ultimately leading to a multi-systemic organ failure in ...
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