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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 109176602.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 106078803.

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 94402834.

Activation of mitochondrial TRAP1 stimulates mitochondria-lysosome crosstalk and correction of lysosomal dysfunction

Fannie W. Chen, Joanna P. Davies, Raul Calvo, Jagruti Chaudhari, Georgia Dolios, Mercedes K. Taylor, Samarjit Patnaik, Jean Dehdashti, Rebecca Mull, Patricia Dranchack, Amy Wang, Xin Xu, Emma Hughes, Noel Southall, Marc Ferrer, Rong Wang, Juan J. Marugan, Yiannis A. Ioannou

iScience. 2022 Sep 16; 25(9): 104941. Published online 2022 Aug 14. doi: 10.1016/j.isci.2022.104941

PMCID:: PMC9440283

Abstract Article PDF–5.5M

Select item 91420435.

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 72369836.

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases

Maria Paola Belfiore, Francesca Iacobellis, Emma Acampora, Martina Caiazza, Marta Rubino, Emanuele Monda, Maria Rosaria Magaldi, Antonietta Tarallo, Marcella Sasso, Valeria De Pasquale, Roberto Grassi, Salvatore Cappabianca, Paolo Calabrò, Simona Fecarotta, Salvatore Esposito, Giovanni Esposito, Antonio Pisani, Luigi Michele Pavone, Giancarlo Parenti, Giuseppe Limongelli

PLoS One. 2020; 15(5): e0233050. Published online 2020 May 19. doi: 10.1371/journal.pone.0233050

PMCID:: PMC7236983

Abstract Article PDF–1.5M

Select item 71861837.

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 69922338.

Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology

Niamh X. Cawley, Caitlin Sojka, Antony Cougnoux, Anna T. Lyons, Elena‐Raluca Nicoli, Christopher A. Wassif, Forbes D. Porter

PLoS One. 2020; 15(1): e0227829. Published online 2020 Jan 30. doi: 10.1371/journal.pone.0227829

PMCID:: PMC6992233

Abstract Article PDF–2.9M

Select item 68215339.

Heat Shock Protein-based therapy as a potential candidate for treating sphingolipidoses

Thomas Kirkegaard, James Gray, David A Priestman, Kerri-Lee Wallom, Jennifer Atkins, Ole Dines Olsen, Alexander Klein, Svetlana Drndarski, Nikolaj H. T. Petersen, Linda Ingemann, David A. Smith, Lauren Morris, Claus Bornæs, Signe Humle Jørgensen, Ian Williams, Anders Hinsby, Christoph Arenz, David Begley, Marja Jäättelä, Frances M. Platt

Sci Transl Med. Author manuscript; available in PMC 2019 Oct 30.

Published in final edited form as: Sci Transl Med. 2016 Sep 7; 8(355): 355ra118. doi: 10.1126/scitranslmed.aad9823

PMCID:: PMC6821533

Abstract Article PDF–2.4M

Select item 653303910.

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 645169411.

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 626277712.

LCP1 preferentially binds clasped αMβ2 integrin and attenuates leukocyte adhesion under flow

Hui-yuan Tseng, Anna V. Samarelli, Patricia Kammerer, Sarah Scholze, Tilman Ziegler, Roland Immler, Roy Zent, Markus Sperandio, Charles R. Sanders, Reinhard Fässler, Ralph T. Böttcher

J Cell Sci. 2018 Nov 15; 131(22): jcs218214. Published online 2018 Nov 21. doi: 10.1242/jcs.218214

PMCID:: PMC6262777

Abstract Article

Select item 607106213.

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 603625214.

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 598572715.

Microglia activation in Niemann–Pick disease, type C1 is amendable to therapeutic intervention

Antony Cougnoux, Rebecca A Drummond, Amanda L Collar, James R Iben, Alexander Salman, Harrison Westgarth, Christopher A Wassif, Niamh X Cawley, Nicole Y Farhat, Keiko Ozato, Michail S Lionakis, Forbes D Porter

Hum Mol Genet. 2018 Jun 15; 27(12): 2076–2089. Published online 2018 Mar 30. doi: 10.1093/hmg/ddy112

PMCID:: PMC5985727

Abstract Article PDF–1.7M

Select item 551028916.

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 549126017.

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 533761818.

Spatiotemporal Analysis of a Glycolytic Activity Gradient Linked to Mouse Embryo Mesoderm Development

Vinay Bulusu, Nicole Prior, Marteinn T. Snaebjornsson, Andreas Kuehne, Katharina F. Sonnen, Jana Kress, Frank Stein, Carsten Schultz, Uwe Sauer, Alexander Aulehla

Dev Cell. 2017 Feb 27; 40(4): 331–341.e4. doi: 10.1016/j.devcel.2017.01.015

PMCID:: PMC5337618

Abstract Article

Select item 500982819.

Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model

Jarmila Lakomá, Roberto Rimondini, Antonio Ferrer Montiel, Vincenzo Donadio, Rocco Liguori, Marco Caprini

Mol Pain. 2016; 12: 1744806916663729. Published online 2016 Aug 16. doi: 10.1177/1744806916663729

PMCID:: PMC5009828

Abstract Article PDF–1.3M

Select item 495618020.

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

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