Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report [PDF]
Zhenduanxue lilun yu shijian, 2022 Fabry′s disease is an X-linked recessive genetic disease, which is mainly due to the mutation of (galactosidase A, GLA) gene. The decrease or loss of GLA activity eventually leads to the deposition of its metabolic substrate in multiple organs of
HAO Xu, WANG Weiming
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RIPK3 Contributes to Lyso-Gb3-Induced Podocyte Death
Cells, 2021 Fabry disease is a lysosomal storage disease with an X-linked heritage caused by absent or decreased activity of lysosomal enzymes named alpha-galactosidase A (α-gal A).
So-Young Kim +10 more
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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
Proceedings of the National Academy of Sciences of the United States of America, 1979 R. Desnick +4 more
semanticscholar +3 more sources
Proceedings of the National Academy of Sciences of the United States of America, 1988 D. Bishop, R. Kornreich, R. Desnick
semanticscholar +3 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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The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]
, 2015 The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina +3 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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