Results 11 to 20 of about 118,748,616 (241)

Isolation and Identification of an α-Galactosidase-Producing Lactosphaera pasteurii Strain and Its Enzymatic Expression Analysis

Molecules, 2022
α-Galactosidase (EC 3.2.1.22) refers to a group of enzymes that hydrolyze oligosaccharides containing α-galactoside-banded glycosides, such as stachyose, raffinose, and verbascose.
Yan Zhao, Jinghui Zhou, Shan Dai, Xiaozhu Liu, Xuewen Zhang   +4 more
doaj   +2 more sources

Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease [PDF]

Frontiers in Genetics, 2023
Background: Anderson–Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha ...
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo   +8 more
doaj   +2 more sources

Purification and characterization of an alpha-galactosidase from Aspergillus fumigatus [PDF]

Brazilian Archives of Biology and Technology, 2005
Aspergillus fumigatus secreted invertase (beta-fructofuranosidase) and alpha-galactosidase enzymatic activities able to hydrolyzing raffinose oligosaccharides (RO).
Sebastião Tavares de Rezende, Valéria Monteze Guimarães, Marília de Castro Rodrigues, Carlos Roberto Felix   +3 more
doaj   +2 more sources

Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones. [PDF]

Int J Mol Sci, 2022
Fabry disease is caused by a deficiency of lysosomal alpha galactosidase and has a very large genotypic and phenotypic spectrum. Some patients who carry hypomorphic mutations can benefit from oral therapy with a pharmacological chaperone.
Monticelli M, Liguori L, Allocca M, Bosso A, Andreotti G, Lukas J, Monti MC, Morretta E, Cubellis MV, Hay Mele B.   +9 more
europepmc   +2 more sources

Nucleoside-Modified mRNA Encoding Alpha-Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC-Derived Cardiomyocytes. [PDF]

Adv Sci (Weinh)
Human iPSC‐derived Fabry cardiomyocytes exhibited broad transcriptional dysregulation, apoptosis, mitochondrial dysfunction, impaired reactive oxygen species handling, altered contractility, and abnormal calcium transient decay, potentially mediated by phospholamban hyperphosphorylation.
Juchem M, Oehlsen L, Ersoy S, Ye JL, Weber N, Mohr E, Agyapong W, Liu J, Fuchs M, Xiao K, Jahn C, Eggenschwiler R, Cantz T, Beimdiek J, Buettner FFR, Kraft T, Hegermann J, Knorr IJ, Ernst L, Feldbrügge L, Puffert R, Schmidt K, Bär C, Hoepfner J, Thum T.   +24 more
europepmc   +2 more sources

A pilot trial on subjects with lactose and/or oligosaccharides intolerance treated with a fixed mixture of pure and enteric-coated α- and ß-galactosidase

Clinical and Experimental Gastroenterology, 2015
Francesco Di Pierro,1 Alexander Bertuccioli,2 Eleonora Marini,3 Leandro Ivaldi4 1Velleja Research, Milan, Italy; 2Italian Association Fitness and Medicine, Fano, PU, Italy; 3Pharmextracta, Pontenure, Piacenza, Italy; 4Digestive Endoscopic Department ...
Di Pierro F, Bertuccioli A, Marini E, Ivaldi L   +3 more
doaj   +1 more source

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, Dwayne L. Barber, Ju Huang, C. Anthony Rupar, Jack W. Rip, Christiane Auray-Blais, Michel Boutin, Pamela O’Hoski, Kristy Gargulak, William M. McKillop, Graeme Fraser, Syed Wasim, Kaye LeMoine, Shelly Jelinski, Ahsan Chaudhry, Nicole Prokopishyn, Chantal F. Morel, Stephen Couban, Peter R. Duggan, Daniel H. Fowler, Armand Keating, Michael L. West, Ronan Foley, Jeffrey A. Medin   +23 more
doaj   +1 more source

ОПРЕДЕЛИТЬ БОЛЕЗНЬ ФАБРИ

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, Н. А. Былова   +1 more
doaj   +1 more source

Alpha-Galactosidase A Levels in Colombian Males with End-Stage Renal Disease: Ten Years of Selective Screening in Dried Blood Spots

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, John Freddy Gamba-Rendon   +1 more
doaj   +1 more source

Characterization of small fiber pathology in a mouse model of Fabry disease

eLife, 2018
Fabry disease (FD) is a life-threatening X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL) deficiency. Small fiber pathology and pain are major FD symptoms of unknown pathophysiology.
Lukas Hofmann, Dorothea Hose, Anne Grießhammer, Robert Blum, Frank Döring, Sulayman Dib-Hajj, Stephen Waxman, Claudia Sommer, Erhard Wischmeyer, Nurcan Üçeyler   +9 more
doaj   +1 more source