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

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

Fabry disease is caused by deficient activity of α-galactosidase A (GLA) and characterized by systemic accumulation of glycosphingolipids, substrates of the enzyme. To gain insight into the pathogenesis of Fabry disease based on accumulated substrates, we examined the tissue and plasma distributions...

Full description

Bibliographic Details
Main Authors:	Hideaki Sueoka, Mikio Aoki, Takahiro Tsukimura, Tadayasu Togawa, Hitoshi Sakuraba
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2015-01-01
Series:	PLoS ONE
Online Access:	https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0144958&type=printable

Similar Items

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease
by: Takahiro Tsukimura, et al.
Published: (2014-01-01)

Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice
by: Takahiro Tsukimura, et al.
Published: (2024-09-01)

Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?
by: Takahiro Tsukimura, et al.
Published: (2024-06-01)

Correction: Globotriaosylceramide Accumulation and Not Alpha-Galactosidase-A Deficiency Causes Endothelial Dysfunction in Fabry Disease
Published: (2012-01-01)

Fabry disease in a Japanese population-molecular and biochemical characteristics
by: Hitoshi Sakuraba, et al.
Published: (2018-12-01)

Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease
by: Hitoshi Sakuraba, et al.
Published: (2015-07-01)

Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease.
by: Nurcan Üçeyler, et al.
Published: (2016-01-01)

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.
by: Brandy Young-Gqamana, et al.
Published: (2013-01-01)

Screening and diagnosis of Fabry disease in chronic kidney disease: the important role of globotriaosylsphingosine
by: Jung-ho Shin, et al.
Published: (2024-01-01)

Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report
by: Keiko Tanaka, et al.
Published: (2024-06-01)

Delivery of Therapeutic Molecules by Transplantation of Genome-Edited Induced Pluripotent Stem Cells
by: Ittetsu Nakajima, et al.
Published: (2023-05-01)

Optimizing human α-galactosidase for treatment of Fabry disease
by: William C. Hallows, et al.
Published: (2023-03-01)

A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse
by: Seok-Ho Shin, et al.
Published: (2018-06-01)

Ceria-Zirconia nanoparticles reduce intracellular globotriaosylceramide accumulation and attenuate kidney injury by enhancing the autophagy flux in cellular and animal models of Fabry disease
by: Jong Hun An, et al.
Published: (2022-03-01)

α-Galactosidase A Augmentation by Non-Viral Gene Therapy: Evaluation in Fabry Disease Mice
by: Julen Rodríguez-Castejón, et al.
Published: (2021-05-01)

The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models
by: Pedro Besada, et al.
Published: (2021-12-01)

Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study
by: Magdalena Cerón‐Rodríguez, et al.
Published: (2019-11-01)

In vitro effect of globotriaosylceramide on electron transport chain complexes and redox parameters
by: RAFAELA M. ALVARIZ, et al.

Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family
by: Yushi Peng, et al.
Published: (2024-12-01)

Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease
by: Dominique P. Germain, et al.
Published: (2024-04-01)

A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry
by: Amber Van Baelen, et al.
Published: (2023-12-01)

A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3)
by: Alessandro Perrone, et al.
Published: (2021-12-01)

Knockout mutants of Arabidopsis thaliana β-galactosidase. Modifications in the cell wall saccharides and enzymatic activities
by: M. Moneo-Sánchez, et al.
Published: (2018-01-01)

Preclinical efficacy and safety of adeno-associated virus 5 alpha-galactosidase: A gene therapy for Fabry disease
by: Jolanda M.P. Liefhebber, et al.
Published: (2024-12-01)

Cardiac energy metabolism is disturbed in Fabry disease and improves with enzyme replacement therapy using recombinant human galactosidase A.
by: Machann, W, et al.
Published: (2011)

Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease.
by: Valentina Citro, et al.
Published: (2016-01-01)

Human Alpha Galactosidases Transiently Produced in Nicotiana benthamiana Leaves: New Insights in Substrate Specificities with Relevance for Fabry Disease
by: Kassiani Kytidou, et al.
Published: (2017-06-01)

Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
by: Shabbeer Junaid, et al.
Published: (2006-03-01)

The Shiga Toxin Receptor Globotriaosylceramide as Therapeutic Target in Shiga Toxin <i>E. coli</i> Mediated HUS
by: Wouter J. C. Feitz, et al.
Published: (2021-10-01)

Verotoxin-1 Treatment or Manipulation of its Receptor Globotriaosylceramide (Gb3) for Reversal of Multidrug Resistance to Cancer Chemotherapy
by: Kjell Grankvist, et al.
Published: (2010-10-01)

Impaired neural differentiation of induced pluripotent stem cells generated from a mouse model of Sandhoff disease.
by: Yasuhiro Ogawa, et al.
Published: (2013-01-01)

Stability of native and modified α-galactosidase of Cladosporium cladosporioides
by: N. V. Borzova, et al.
Published: (2015-08-01)

Role of glycosylation in secretion and stability of micromycetes α-galactosidase
by: N. V. Borzova, et al.
Published: (2014-12-01)

Research Progess in the Evolution and Functions of Plant α-galactosidases
by: Xiumei LI, et al.
Published: (2022-11-01)

Shiga Toxin Type 2dact Displays Increased Binding to Globotriaosylceramide in vitro and Increased Lethality in Mice after Activation by Elastase
by: Alison D. O'Brien, et al.
Published: (2013-11-01)

Piperidine analogues of D-galactose as potent inhibitors of alpha-galactosidase: Synthesis by stannane-mediated hydroxymethylation of 5-azido-1,4-lactones. Structural relationships between D-galactosidase and L-rhamnosidase inhibitors
by: Shilvock, J, et al.
Published: (1999)

Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease
by: Christine R. Kaneski, et al.
Published: (2022-12-01)

β-Galactosidase Deficiency in Colombia
by: Alfredo Uribe PhD, et al.
Published: (2015-05-01)

Carboxyl-terminal truncations alter the activity of the human α-galactosidase A.
by: Mariam Meghdari, et al.
Published: (2015-01-01)

Kinetic Properties of α-Galactosidase and the Localization of Total Proteins in Erwinia chrysanthemi
by: John Morgan Brand, et al.
Published: (2004-01-01)