Results 31 to 40 of about 7,193 (177)

Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation

Open Heart, 2023
Objective To present phenotypic characteristics and biomarkers of a family with the rare mutation Thr410Ala of the α-galactosidase A gene (T410A/GLA) causing Fabry disease (FD).Methods and results In a woman in her 60s with hypertrophic cardiomyopathy ...
Christiane Auray-Blais, Kati Valtola, Marja Hedman, Maleeha Maria, Ilkka Kantola, Johanna Kuusisto, Seppo Helisalmi, Susanne Walls, Joose Raivo   +8 more
doaj   +1 more source

Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy [PDF]

Clinical and Experimental Nephrology, 2017
Recently, globotriaosylsphingosine (lyso-Gb3) has attracted interest as a biomarker of Fabry disease. However, little is known regarding its utility for the evaluation of the therapeutic efficacy.We measured plasma lyso-Gb3 concentration in Japanese healthy subjects and Fabry patients by means of liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Hitoshi, Sakuraba, Tadayasu, Togawa, Takahiro, Tsukimura, Hiroshi, Kato   +3 more
openaire   +2 more sources

Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice

Journal of Lipid Research, 2011
The aim of our study was to measure globotriaosylceramide (Gb3) and lyso-Gb3 levels by tandem mass spectrometry in the urine and kidney in Fabry (gla knockout) mice and wild-type controls.
Brandon Durant, Sabrina Forni, Lawrence Sweetman, Nastry Brignol, Xing-Li Meng, Elfrida R. Benjamin, Raphael Schiffmann, Jin-Song Shen   +7 more
doaj   +1 more source

AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction

Molecular Therapy: Methods & Clinical Development, 2020
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene, which encodes the exogalactosyl hydrolase, alpha-galactosidase A (α-Gal A).
Makiko Yasuda, Marshall W. Huston, Silvere Pagant, Lin Gan, Susan St. Martin, Scott Sproul, Daniel Richards, Stephen Ballaron, Khaled Hettini, Annemarie Ledeboer, Lillian Falese, Liching Cao, Yanmei Lu, Michael C. Holmes, Kathleen Meyer, Robert J. Desnick, Thomas Wechsler   +16 more
doaj   +1 more source

Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease.

PLoS ONE, 2015
Fabry disease is caused by deficient activity of α-galactosidase A (GLA) and characterized by systemic accumulation of glycosphingolipids, substrates of the enzyme.
Hideaki Sueoka, Mikio Aoki, Takahiro Tsukimura, Tadayasu Togawa, Hitoshi Sakuraba   +4 more
doaj   +1 more source

Patient-Reported Outcomes in Subjects With A143T and R118C GLA Gene Variants

Journal of Inborn Errors of Metabolism and Screening, 2021
Background Fabry disease (FD) is caused by pathogenic variants in the GLA gene. A143T and R118C variants are considered not disease causing. Patient-reported outcomes provide information concerning the effects of their disease but should be carefully ...
Nilton Salles Rosa Neto, Judith Campos de Barros Bento, Rosa Maria Rodrigues Pereira   +2 more
doaj   +1 more source

Human Alpha Galactosidases Transiently Produced in Nicotiana benthamiana Leaves: New Insights in Substrate Specificities with Relevance for Fabry Disease

Frontiers in Plant Science, 2017
Deficiency of α-galactosidase A (α-GAL) causes Fabry disease (FD), an X-linked storage disease of the glycosphingolipid globtriaosylcerammide (Gb3) in lysosomes of various cells and elevated plasma globotriaosylsphingosine (Lyso-Gb3) toxic for podocytes ...
Kassiani Kytidou, Thomas J. M. Beenakker, Lotte B. Westerhof, Cornelis H. Hokke, Geri F. Moolenaar, Nora Goosen, Mina Mirzaian, Maria J. Ferraz, Mark de Geus, Wouter W. Kallemeijn, Herman S. Overkleeft, Rolf G. Boot, Arjen Schots, Dirk Bosch, Johannes M. F. G. Aerts   +14 more
doaj   +1 more source

Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease [PDF]

Journal of Nephropathology, 2015
Background: The existence of membranous cytoplasmic bodies in biopsied kidney tissues is one of the important findings when considering Fabry disease as the first choice diagnosis.
Hitoshi Sakuraba, Takahiro Tsukimura, Toshie Tanaka, Tadayasu Togawa, Naoki Takahashi, Daisuke Mikami, Sachiko Wakai, Yasuhiro Akai   +7 more
doaj   +1 more source

Fabry Disease Nephropathy: Compendium of “in vitro” and “in vivo” Renal Effects of Globotriaosylsphingosine

Kidney & Blood Pressure Research
Background: Renal damage in Fabry disease (FD) is a consequence of pathological and progressive glycosphingolipids accumulation, which occurs in different magnitudes among FD phenotypes, but is a constant renal tissue phenomenon in all ...
Sebastián Pedro Antonio Jaurretche, María Victoria del Rosal, María Luana Brajkovic, Juan Ignacio Isaac, Graciela Venera, Germán Pérez   +5 more
doaj   +1 more source

Assessment and impact of dose escalation on anti-drug antibodies in Fabry disease

Frontiers in Immunology, 2022
Enzyme replacement therapy (ERT) with recombinant α-galactosidase A (AGAL) can lead to the formation of neutralizing anti-drug antibodies (ADA), which significantly limit treatment efficacy in patients with Fabry disease (FD).
Malte Lenders, Eva Brand
doaj   +1 more source