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Select item 111426641.

Cardiac manifestations of Fabry disease in G3Stg/GlaKO and GlaKO mouse models–Translation to Fabry disease patients

Abirami Kugadas, Pietro Artoni, Wanida Ruangsiriluk, Meng Zhao, Natalia Boukharov, Rizwana Islam, Dmitri Volfson, Katayoun Derakhchan

PLoS One. 2024; 19(5): e0304415. Published online 2024 May 31. doi: 10.1371/journal.pone.0304415

PMCID:: PMC11142664

Abstract Article PDF–2.2M

Select item 106078802.

Endothelial Cell Dysfunction and Hypoxia as Potential Mediators of Pain in Fabry Disease: A Human-Murine Translational Approach

Katharina Klug, Marlene Spitzel, Clara Hans, Alexandra Klein, Nicole Michelle Schottmann, Christoph Erbacher, Nurcan Üçeyler

Int J Mol Sci. 2023 Oct; 24(20): 15422. Published online 2023 Oct 21. doi: 10.3390/ijms242015422

PMCID:: PMC10607880

Abstract Article PDF–13M

Select item 91420433.

CARS Imaging Advances Early Diagnosis of Cardiac Manifestation of Fabry Disease

Elen Tolstik, Nairveen Ali, Shuxia Guo, Paul Ebersbach, Dorothe Möllmann, Paula Arias-Loza, Johann Dierks, Irina Schuler, Erik Freier, Jörg Debus, Hideo A. Baba, Peter Nordbeck, Thomas Bocklitz, Kristina Lorenz

Int J Mol Sci. 2022 May; 23(10): 5345. Published online 2022 May 11. doi: 10.3390/ijms23105345

PMCID:: PMC9142043

Abstract Article PDF–3.0M

Select item 71861834.

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

Satoshi Ishii, Atsumi Taguchi, Nozomu Okino, Makoto Ito, Hiroki Maruyama

J Biol Chem. 2020 Apr 24; 295(17): 5577–5587. Published online 2020 Mar 16. doi: 10.1074/jbc.RA120.012665

PMCID:: PMC7186183

Abstract Article PDF–2.1M

Select item 65330395.

Voluntary wheel running activates Akt/AMPK/eNOS signaling cascades without improving profound endothelial dysfunction in mice deficient in α-galactosidase A

Justin J. Kang, Taylour A. Treadwell, Peter F. Bodary, James A. Shayman

PLoS One. 2019; 14(5): e0217214. Published online 2019 May 23. doi: 10.1371/journal.pone.0217214

PMCID:: PMC6533039

Abstract Article PDF–1.8M

Select item 64516946.

Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates

Xuling Zhu, Ling Yin, Matt Theisen, Jenny Zhuo, Summar Siddiqui, Becca Levy, Vladimir Presnyak, Andrea Frassetto, Jaclyn Milton, Timothy Salerno, Kerry E. Benenato, Joe Milano, Andy Lynn, Staci Sabnis, Kristine Burke, Gilles Besin, Christine M. Lukacs, Lin T. Guey, Patrick F. Finn, Paolo G.V. Martini

Am J Hum Genet. 2019 Apr 4; 104(4): 625–637. Published online 2019 Mar 14. doi: 10.1016/j.ajhg.2019.02.003

PMCID:: PMC6451694

Abstract Article PDF–3.1M

Select item 60710627.

Medullary thick ascending limb impairment in the Gla^tmTg(CAG-A4GALT) Fabry model mice

Hiroki Maruyama, Atsumi Taguchi, Yuji Nishikawa, Chu Guili, Mariko Mikame, Masaaki Nameta, Yutaka Yamaguchi, Mitsuhiro Ueno, Naofumi Imai, Yumi Ito, Takahiko Nakagawa, Ichiei Narita, Satoshi Ishii

FASEB J. 2018 Aug; 32(8): 4544–4559. Published online 2018 Mar 19. doi: 10.1096/fj.201701374R

PMCID:: PMC6071062

Abstract Article

Select item 60362528.

Altered Gene Expression in Prefrontal Cortex of a Fabry Disease Mouse Model

Kai K. Kummer, Theodora Kalpachidou, Miodrag Mitrić, Michiel Langeslag, Michaela Kress

Front Mol Neurosci. 2018; 11: 201. Published online 2018 Jun 25. doi: 10.3389/fnmol.2018.00201

PMCID:: PMC6036252

Abstract Article PDF–2.3M

Select item 55102899.

Changes in Ionic Conductance Signature of Nociceptive Neurons Underlying Fabry Disease Phenotype

Barbara Namer, Kirstin Ørstavik, Roland Schmidt, Norbert Mair, Inge Petter Kleggetveit, Maximillian Zeidler, Theresa Martha, Ellen Jorum, Martin Schmelz, Theodora Kalpachidou, Michaela Kress, Michiel Langeslag

Front Neurol. 2017; 8: 335. Published online 2017 Jul 14. doi: 10.3389/fneur.2017.00335

PMCID:: PMC5510289

Abstract Article PDF–4.1M

Select item 549126010.

Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease

Lukas Hofmann, Franziska Karl, Claudia Sommer, Nurcan Üçeyler

PLoS One. 2017; 12(6): e0180601. Published online 2017 Jun 29. doi: 10.1371/journal.pone.0180601

PMCID:: PMC5491260

Abstract Article PDF–2.0M

Select item 495618011.

Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development

Nurcan Üçeyler, Lydia Biko, Dorothea Hose, Lukas Hofmann, Claudia Sommer

Mol Pain. 2016; 12: 1744806916646379. Published online 2016 May 4. doi: 10.1177/1744806916646379

PMCID:: PMC4956180

Abstract Article PDF–879K

Select item 420627612.

Jarmila Lakomá, Roberto Rimondini, Vincenzo Donadio, Rocco Liguori, Marco Caprini

PLoS One. 2014; 9(10): e108641. Published online 2014 Oct 22. doi: 10.1371/journal.pone.0108641

PMCID:: PMC4206276

Abstract Article PDF–1.0M

Select item 416005313.

A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis

Atsumi Taguchi, Hiroki Maruyama, Masaaki Nameta, Tadashi Yamamoto, Junichiro Matsuda, Ashok B. Kulkarni, Hidekatsu Yoshioka, Satoshi Ishii

Biochem J. Author manuscript; available in PMC 2014 Dec 15.

Published in final edited form as: Biochem J. 2013 Dec 15; 456(3): 373–383. doi: 10.1042/BJ20130825

PMCID:: PMC4160053

Abstract Article PDF–4.6M

Select item 393323814.

Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice

Michael P Nelson, Tonia E Tse, Darrel B O’Quinn, Stefanie M Percival, Edgar A Jaimes, David G Warnock, John J Shacka

Acta Neuropathol Commun. 2014; 2: 20. Published online 2014 Feb 14. doi: 10.1186/2051-5960-2-20

PMCID:: PMC3933238

Abstract Article PDF–3.0M

Select item 358940415.

Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb₃) in Fabry Transgenic Mice and in the Plasma of Fabry Patients

Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, Richie Khanna, Rebecca Soska, Maria Fuller, Sheela A. Sitaraman, Dominique P. Germain, Roberto Giugliani, Derralynn A. Hughes, Atul Mehta, Kathy Nicholls, Pol Boudes, David J. Lockhart, Kenneth J. Valenzano, Elfrida R. Benjamin

PLoS One. 2013; 8(3): e57631. Published online 2013 Mar 5. doi: 10.1371/journal.pone.0057631

PMCID:: PMC3589404

Abstract Article PDF–951K

Select item 334481916.

Cardiomyopathy and Response to Enzyme Replacement Therapy in a Male Mouse Model for Fabry Disease

Aurelie Nguyen Dinh Cat, Brigitte Escoubet, Vincent Agrapart, Violaine Griol-Charhbili, Trenton Schoeb, Wenguang Feng, Edgar Jaimes, David G. Warnock, Frederic Jaisser

PLoS One. 2012; 7(5): e33743. Published online 2012 May 4. doi: 10.1371/journal.pone.0033743

PMCID:: PMC3344819

Abstract Article PDF–400K

Select item 315169417.

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

Brandon Durant, Sabrina Forni, Lawrence Sweetman, Nastry Brignol, Xing-Li Meng, Elfrida R. Benjamin, Raphael Schiffmann, Jin-Song Shen

J Lipid Res. 2011 Sep; 52(9): 1742–1746. doi: 10.1194/jlr.M017178

PMCID:: PMC3151694

Abstract Article PDF–682K

Select item 286481218.

α-Galactosidase A-Tat Fusion Enhances Storage Reduction in Hearts and Kidneys of Fabry Mice

Koji Higuchi, Makoto Yoshimitsu, Xin Fan, Xiaoxin Guo, Vanessa I Rasaiah, Jennifer Yen, Chuwa Tei, Toshihiro Takenaka, Jeffrey A Medin

Mol Med. 2010 May-Jun; 16(5-6): 216–221. Published online 2010 Feb 17. doi: 10.2119/molmed.2009.00163

PMCID:: PMC2864812

Abstract Article PDF–1.1M

Select item 283920619.

The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

Richie Khanna, Rebecca Soska, Yi Lun, Jessie Feng, Michelle Frascella, Brandy Young, Nastry Brignol, Lee Pellegrino, Sheela A Sitaraman, Robert J Desnick, Elfrida R Benjamin, David J Lockhart, Kenneth J Valenzano

Mol Ther. 2010 Jan; 18(1): 23–33. Published online 2009 Sep 22. doi: 10.1038/mt.2009.220

PMCID:: PMC2839206

Abstract Article PDF–641K

Select item 274414920.

The vascular dysfunction in the α-galactosidase A knockout mouse is an endothelial cell, plasma membrane-based defect

James L Park, Steven E Whitesall, Louis G D'Alecy, Liming Shu, James A Shayman

Clin Exp Pharmacol Physiol. Author manuscript; available in PMC 2009 Sep 15.

Published in final edited form as: Clin Exp Pharmacol Physiol. 2008 Oct; 35(10): 1156–1163. Published online 2008 Jun 18. doi: 10.1111/j.1440-1681.2008.04984.x