Results 21 to 30 of about 286,880 (314)

Enzymatic properties and clinical associations of serum alpha‐galactosidase A in Parkinson's disease [PDF]

Annals of Clinical and Translational Neurology, 2023
Objective Recent studies have revealed an association between Parkinson's disease (PD) and Fabry disease, a lysosomal storage disorder; however, the underlying mechanisms remain to be elucidated.
Yasuaki Mizutani, Kazuki Nawashiro, Reiko Ohdake, Harutsugu Tatebe, Sayuri Shima, Akihiro Ueda, Junichiro Yoshimoto, Mizuki Ito, Takahiko Tokuda, Tatsuro Mutoh, Hirohisa Watanabe   +10 more
doaj   +2 more sources

Preclinical efficacy and safety of adeno-associated virus 5 alpha-galactosidase: A gene therapy for Fabry disease. [PDF]

Mol Ther Methods Clin Dev
We developed a novel adeno-associated virus 5 gene therapy (AAV5-GLA) expressing human alpha-galactosidase A (GLA) under the control of a novel, small and strong, liver-restricted promoter.
Liefhebber JMP, Brasser G, Spronck EA, Ottenhoff R, Paerels L, Ferraz MJ, Schwarz LK, Efthymiopoulou N, Kuo CL, Montenegro-Miranda PS, Evers MM, Aerts JMFG, Liu YP.   +12 more
europepmc   +2 more sources

Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A. [PDF]

Proceedings of the National Academy of Sciences, 1985
Fabry disease is an X-linked inborn error of metabolism resulting from the deficient activity of the lysosomal hydrolase, alpha-galactosidase A (alpha-Gal A; alpha-D-galactoside galactohydrolase, EC 3.2.1.22). To investigate the structure, organization, and expression of alpha-Gal A, as well as the nature of mutations in Fabry disease, a clone encoding
D. Calhoun, D. Bishop, H. Bernstein, M. Quinn, P. Hantzopoulos, R. Desnick   +5 more
semanticscholar   +3 more sources

Sequence variations in the first exon of alpha-galactosidase A. [PDF]

Journal of Medical Genetics, 1993
The alpha-galactosidase A gene (GALA), which is deficient in males with Anderson-Fabry disease, is shown to be remarkably polymorphic in the 5' untranslated region. GALA contains seven exons. The first exon contains 60 bp of 5' untranslated sequence before the methionine initiation codon.
J. Davies, B. Winchester, S. Malcolm
semanticscholar   +3 more sources

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. [PDF]

PLoS Genet, 2013
Fabry disease (FD) is an X-linked hereditary defect of glycosphingolipid storage caused by mutations in the gene encoding the lysosomal hydrolase α-galactosidase A (GLA, α-gal A).
Lukas J, Giese AK, Markoff A, Grittner U, Kolodny E, Mascher H, Lackner KJ, Meyer W, Wree P, Saviouk V, Rolfs A.   +10 more
europepmc   +2 more sources

Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice

Acta Neuropathologica Communications, 2014
BackgroundMutations in the gene for alpha-galactosidase A result in Fabry disease, a rare, X-linked lysosomal storage disorder characterized by a loss of alpha-galactosidase A enzymatic activity.
Michael P. Nelson, T. Tse, Darrell B. O'Quinn, Stefanie M. Percival, E. Jaimes, D. Warnock, J. Shacka   +6 more
semanticscholar   +3 more sources

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion

Journal of Cell Biology, 1992
Human lysosomal alpha-galactosidase A (alpha-Gal A) was stably overexpressed in CHO cells and its biosynthesis and targeting were investigated. Clone AGA5.3-1000Mx, which was the highest enzyme overexpressor, produced intracellular alpha-Gal A levels of ...
Yiannis Ioannou, David F. Bishop, Robert J. Desnick   +2 more
semanticscholar   +3 more sources

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
doaj   +4 more sources

Genetic variants of unknown significance in alpha‐galactosidase A: Cellular delineation from Fabry disease

Journal of Inherited Metabolic Disease
AbstractFabry disease (FD) is an X‐linked multiorgan disorder caused by variants in the alpha‐galactosidase A gene (GLA). Depending on the variant, disease phenotypes range from benign to life‐threatening. More than 1000 GLA variants are known, but a link between genotype and phenotype in FD has not yet been established for all. p.A143T, p.D313Y, and p.
Alexandra Klein, Katharina Klug, Maximilian Breyer, Julia Grüner, Vijay Krishna Medala, Peter Nordbeck, Christoph Wanner, Eva Klopocki, Nurcan Üçeyler   +8 more
openaire   +5 more sources

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. [PDF]

, 2015
UnlabelledMigalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently
Adera, Mathews, Barlow, Carrolee, Barth, Jay, Bichet, Daniel G, Boudes, Pol, Eyskens, Francois, Flanagan, John J, Goker-Alpan, Ozlem, Holida, Myrl, Johnson, Franklin K, Khanna, Richie, Lockhart, David J, Nicholls, Kathy, Shankar, Suma, Sitaraman, Sheela, Thomas, Mark, Valenzano, Kenneth J, Warnock, David G, Wustman, Brandon A   +18 more
core   +16 more sources