Literature DB >> 27523577

Relative distribution of Gb3 isoforms/analogs in NOD/SCID/Fabry mice tissues determined by tandem mass spectrometry.

Philippe Provençal1, Michel Boutin1, Shaalee Dworski2, Bryan Au2, Jeffrey A Medin2,3, Christiane Auray-Blais1.   

Abstract

AIM: Fabry disease is a lysosomal storage disorder leading to glycosphingolipid accumulation in different organs, tissues and biological fluids. The development of a Fabry disease gene therapy trial is underway in Canada. A tool to determine the distribution of Gb3 biomarkers in tissues of Fabry mice might be applicable to monitor the effect of gene therapy. Results & methodology: An ultra-performance LC-MS/MS (UPLC-MS/MS) method for the analysis of 22 Gb3 isoform/analogs in various Fabry mice tissues was developed and validated. Marked variation in biomarker organ distribution was found with higher levels in the spleen, followed by the small intestine, kidneys, lungs, heart, liver and brain.
CONCLUSION: The devised method is sensitive and useful for the evaluation of biomarker profiles in Fabry mice.

Entities:  

Keywords:  Fabry disease; MS; NOD/SCID mice; globotriaosylceramide; isoforms/analogs; liquid–liquid extraction; organ biomarker distribution

Mesh：

Substances：

Year:  2016        PMID： 27523577      PMCID： PMC4992964          DOI： 10.4155/bio-2016-0116

Source DB:  PubMed          Journal:  Bioanalysis        ISSN： 1757-6180            Impact factor:   2.681


  40 in total

1.  Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients.

Authors:  Mona Abaoui; Michel Boutin; Pamela Lavoie; Christiane Auray-Blais
Journal:  Clin Chim Acta       Date:  2015-11-22       Impact factor: 3.786

2.  Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.

Authors:  Susana Ferreira; Christiane Auray-Blais; Michel Boutin; Pamela Lavoie; José Pedro Nunes; Elisabete Martins; Scott Garman; João Paulo Oliveira
Journal:  Clin Chim Acta       Date:  2015-06-09       Impact factor: 3.786

3.  Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha.

Authors:  Akemi Tanaka; Taisuke Takeda; Takao Hoshina; Kazuyoshi Fukai; Tsunekazu Yamano
Journal:  J Inherit Metab Dis       Date:  2010-06-22       Impact factor: 4.982

4.  Multiplex analysis of novel urinary lyso-Gb3-related biomarkers for Fabry disease by tandem mass spectrometry.

Authors:  Pamela Lavoie; Michel Boutin; Christiane Auray-Blais
Journal:  Anal Chem       Date:  2013-01-07       Impact factor: 6.986

5.  Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.

Authors:  L G Rodrigues; M J Ferraz; D Rodrigues; M Pais-Vieira; D Lima; R O Brady; M M Sousa; M C Sá-Miranda
Journal:  Neurobiol Dis       Date:  2008-09-23       Impact factor: 5.996

6.  Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.

Authors:  C Auray-Blais; D S Millington; S P Young; J T R Clarke; R Schiffmann
Journal:  J Inherit Metab Dis       Date:  2009-01-26       Impact factor: 4.982

Review 7.  Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature.

Authors:  Antonio Pisani; Bianca Visciano; Graciana Diez Roux; Massimo Sabbatini; Caterina Porto; Giancarlo Parenti; Massimo Imbriaco
Journal:  Mol Genet Metab       Date:  2012-08-11       Impact factor: 4.797

Review 8.  Fabry disease.

Authors:  Dominique P Germain
Journal:  Orphanet J Rare Dis       Date:  2010-11-22       Impact factor: 4.123

9.  Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy.

Authors:  Sachie Nakano; Takahiro Tsukimura; Tadayasu Togawa; Toya Ohashi; Masahisa Kobayashi; Katsuyoshi Takayama; Yukuharu Kobayashi; Hiroshi Abiko; Masatsugu Satou; Tohru Nakahata; David G Warnock; Hitoshi Sakuraba; Futoshi Shibasaki
Journal:  PLoS One       Date:  2015-06-17       Impact factor: 3.240

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

Authors:  Hideaki Sueoka; Mikio Aoki; Takahiro Tsukimura; Tadayasu Togawa; Hitoshi Sakuraba
Journal:  PLoS One       Date:  2015-12-14       Impact factor: 3.240
View more
  7 in total

Review 1.  Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

Authors:  Monique Piraud; Magali Pettazzoni; Pamela Lavoie; Séverine Ruet; Cécile Pagan; David Cheillan; Philippe Latour; Christine Vianey-Saban; Christiane Auray-Blais; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2018-03-19       Impact factor: 4.982

2.  Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model.

Authors:  Siamak Jabbarzadeh-Tabrizi; Michel Boutin; Taniqua S Day; Mouna Taroua; Raphael Schiffmann; Christiane Auray-Blais; Jin-Song Shen
Journal:  J Lipid Res       Date:  2020-08-31       Impact factor: 5.922

3.  Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry Disease.

Authors:  Ju Huang; Aneal Khan; Bryan C Au; Dwayne L Barber; Lucía López-Vásquez; Nicole L Prokopishyn; Michel Boutin; Michael Rothe; Jack W Rip; Mona Abaoui; Murtaza S Nagree; Shaalee Dworski; Axel Schambach; Armand Keating; Michael L West; John Klassen; Patricia V Turner; Sandra Sirrs; C Anthony Rupar; Christiane Auray-Blais; Ronan Foley; Jeffrey A Medin
Journal:  Mol Ther Methods Clin Dev       Date:  2017-05-12       Impact factor: 6.698

4.  Generation of GLA-Knockout Human Embryonic Stem Cell Lines to Model Autophagic Dysfunction and Exosome Secretion in Fabry Disease-Associated Hypertrophic Cardiomyopathy.

Authors:  Hui-Yung Song; Chian-Shiu Chien; Aliaksandr A Yarmishyn; Shih-Jie Chou; Yi-Ping Yang; Mong-Lien Wang; Chien-Ying Wang; Hsin-Bang Leu; Wen-Chung Yu; Yuh-Lih Chang; Shih-Hwa Chiou
Journal:  Cells       Date:  2019-04-08       Impact factor: 6.600

Review 5.  Role of Globotriaosylceramide in Physiology and Pathology.

Authors:  Ana Beatriz Celi; Jorge Goldstein; María Victoria Rosato-Siri; Alipio Pinto
Journal:  Front Mol Biosci       Date:  2022-02-23

6.  Determination of globotriaosylceramide analogs in the organs of a mouse model of Fabry disease.

Authors:  Satoshi Ishii; Atsumi Taguchi; Nozomu Okino; Makoto Ito; Hiroki Maruyama
Journal:  J Biol Chem       Date:  2020-03-16       Impact factor: 5.157

7.  Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.

Authors:  Michel Boutin; Pamela Lavoie; Iskren Menkovic; Amanda Toupin; Mona Abaoui; Maha Elidrissi-Elawad; Marie-Françoise Arthus; Carole Fortier; Claudia Ménard; Bruno Maranda; Daniel G Bichet; Christiane Auray-Blais
Journal:  Int J Mol Sci       Date:  2020-08-25       Impact factor: 5.923
  7 in total

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