Results 31 to 40 of about 6,638 (157)

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

Elucidating the toxic effect and disease mechanisms associated with Lyso-Gb3 in Fabry disease [PDF]

, 2023
Fabry disease stems from a deficiency of alpha-galactosidase and results in the accumulation of globotriaosylceramide (Gb3). However, the production of its deacylated form globotriaosylsphingosine (lyso-Gb3) is also observed and its plasma levels have ...
Warnock, David G, Nikolaenko, Valeria, Heywood, Wendy E, Mills, Kevin   +3 more
core   +1 more source

The use of globotriaosylsphingosine to detect and monitor Fabry Disease [PDF]

, 2016
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of the α-galactosidase-A (α-gal-A) enzyme. The lack of enzymatic activity results in the accumulation of glycosphingolipids (GSLs) in the lysosomes of various tissues and
Alharbi, Fahad Jazza
core   +6 more sources

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

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

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation. [PDF]

PLoS ONE, 2018
Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations.
L Lavalle, A S Thomas, B Beaton, H Ebrahim, M Reed, U Ramaswami, P Elliott, A B Mehta, D A Hughes   +8 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

Fabry disease and incidence of cancer

Orphanet Journal of Rare Diseases, 2017
Background Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including ...
Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes   +4 more
doaj   +1 more source

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease

Molecular Genetics and Metabolism Reports, 2014
Fabry disease is an X-linked genetic disorder characterized by deficient activity of α-galactosidase A (GLA) and accumulation of glycolipids, and various GLA gene mutations lead to a wide range of clinical phenotypes from the classic form to the later ...
Takahiro Tsukimura, Sachie Nakano, Tadayasu Togawa, Toshie Tanaka, Seiji Saito, Kazuki Ohno, Futoshi Shibasaki, Hitoshi Sakuraba   +7 more
doaj   +1 more source

N215S correlation analyses: Plasma globotriaosylsphingosine (Lyso-Gb3) and age for males (blue; n = 13) and females (red; n = 26).

, 2018
N215S correlation analyses: Plasma globotriaosylsphingosine (Lyso-Gb3) and age for males (blue; n = 13) and females (red; n = 26).
B. Beaton (5066303), D. A. Hughes (5066294), U. Ramaswami (5066297), A. S. Thomas (5066300), H. Ebrahim (5066309), P. Elliott (1293702), M. Reed (4855099), A. B. Mehta (5066306), L. Lavalle (5066291)   +8 more
core   +1 more source