Results 11 to 20 of about 114,325,321 (319)

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

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. [PDF]

Orphanet J Rare Dis, 2016
BackgroundFabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma.MethodsTo determine the clinical impact of the alpha-Galactosidase A ...
Lenders M, Weidemann F, Kurschat C, Canaan-Kühl S, Duning T, Stypmann J, Schmitz B, Reiermann S, Krämer J, Blaschke D, Wanner C, Brand SM, Brand E.   +12 more
europepmc   +2 more sources

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]

PLoS Genetics, 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).
J. Lukas, A. Giese, A. Markoff, U. Grittner, E. Kolodny, H. Mascher, K. Lackner, W. Meyer, Phillip Wree, V. Saviouk, A. Rolfs   +10 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 ...
Yiarmis A. Ioannou, David F. Bishop, R. J. Desnick   +2 more
exaly   +2 more sources

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

Intra-Laboratory Validation of Alpha-Galactosidase Activity Measurement in Dietary Supplements [PDF]

Molecules, 2021
Michela Bulfoni
exaly   +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

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, Samel Park, Seong-Woo Lee, Ji-Hye Lee, Eun Soo Lee, Miri Kim, Youngjo Kim, Jeong Suk Kang, Choon Hee Chung, Jong-Seok Moon, Eun Young Lee   +10 more
doaj   +1 more source

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
doaj   +1 more source

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