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Items: 1 to 20 of 69

1.
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
AbstractArticlePDF–2.2M
2.
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
AbstractArticlePDF–4.8M
3.
Comparison of efficacy between subcutaneous and intravenous application of moss‐aGal in the mouse model of Fabry disease
Paulina Dabrowska‐Schlepp, Andreas Busch, Jin‐Song Shen, Rachel Y. Cheong, Lone Bruhn Madsen, Daniel Mascher, Raphael Schiffmann, Andreas Schaaf
JIMD Rep. 2023 Nov; 64(6): 460–467. Published online 2023 Sep 12. doi: 10.1002/jmd2.12393
PMCID:
PMC10623099
AbstractArticlePDF–1.6M
4.
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
AbstractArticlePDF–13M
5.
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
AbstractArticlePDF–5.5M
6.
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
AbstractArticlePDF–3.0M
7.
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
AbstractArticlePDF–1.5M
8.
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
AbstractArticlePDF–2.1M
9.
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
AbstractArticlePDF–2.9M
10.
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
AbstractArticlePDF–2.4M
11.
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
AbstractArticlePDF–1.8M
12.
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
AbstractArticlePDF–3.1M
13.
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
AbstractArticle
14.
Short-lived AUF1 p42-binding mRNAs of RANKL and BCL6 have two distinct instability elements each
Afzal M. Dogar, Ramona Pauchard-Batschulat, Barbara Grisoni-Neupert, Larry Richman, Alexandra Paillusson, Sylvain Pradervand, Otto Hagenbüchle, Giovanna Ambrosini, Christoph D. Schmid, Philipp Bucher, Lukas C. Kühn
PLoS One. 2018; 13(11): e0206823. Published online 2018 Nov 12. doi: 10.1371/journal.pone.0206823
PMCID:
PMC6231638
AbstractArticlePDF–3.8M
15.
Medullary thick ascending limb impairment in the GlatmTg(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
AbstractArticle
16.
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
AbstractArticlePDF–2.3M
17.
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
AbstractArticlePDF–1.7M
18.
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
AbstractArticlePDF–4.1M
19.
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
AbstractArticlePDF–2.0M
20.
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
AbstractArticle

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