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Select item 109304471.

GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease

Ping Li, Yuqian Xi, Yanping Zhang, Abdus Samad, Wenli Lan, Ya Wu, Jiayu Zhao, Guangxin Chen, Changxin Wu, Qiuhong Xiong

Cells. 2024 Mar; 13(5): 437. Published online 2024 Mar 1. doi: 10.3390/cells13050437

PMCID:: PMC10930447

Abstract Article PDF–8.6M

Select item 105026552.

Enzymatic properties and clinical associations of serum alpha‐galactosidase A in Parkinson's disease

Yasuaki Mizutani, Kazuki Nawashiro, Reiko Ohdake, Harutsugu Tatebe, Sayuri Shima, Akihiro Ueda, Junichiro Yoshimoto, Mizuki Ito, Takahiko Tokuda, Tatsuro Mutoh, Hirohisa Watanabe

Ann Clin Transl Neurol. 2023 Sep; 10(9): 1662–1672. Published online 2023 Jul 26. doi: 10.1002/acn3.51856

PMCID:: PMC10502655

Abstract Article PDF–1.5M

Select item 104323743.

All reported non-canonical splice site variants in GLA cause aberrant splicing

Eri Okada, Tomoko Horinouchi, Tomohiko Yamamura, Yuya Aoto, Ryota Suzuki, Yuta Ichikawa, Yu Tanaka, Chika Masuda, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, Shinya Ishiko, China Nagano, Shingo Ishimori, Joichi Usui, Kunihiro Yamagata, Masafumi Matsuo, Kandai Nozu

Clin Exp Nephrol. 2023; 27(9): 737–746. Published online 2023 May 31. doi: 10.1007/s10157-023-02361-x

PMCID:: PMC10432374

Abstract Article PDF–818K

Select item 103489514.

Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families

Vittoria Cianci, Angelo Pascarella, Lucia Manzo, Sara Gasparini, Oreste Marsico, Anna Mammì, Carmelo Massimiliano Rao, Claudio Franzutti, Umberto Aguglia, Edoardo Ferlazzo

Metab Brain Dis. 2023; 38(6): 1905–1912. Published online 2023 Apr 25. doi: 10.1007/s11011-023-01216-4

PMCID:: PMC10348951

Abstract Article PDF–1.0M

Select item 100307815.

Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation

Kati Valtola, Marja Hedman, Ilkka Kantola, Susanne Walls, Seppo Helisalmi, Maleeha Maria, Joose Raivo, Christiane Auray-Blais, Johanna Kuusisto

Open Heart. 2023; 10(1): e002251. Published online 2023 Mar 16. doi: 10.1136/openhrt-2023-002251

PMCID:: PMC10030781

Abstract Article PDF–823K

Select item 93664156.

p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease

Hasan Ali Barman, Adem Atıcı, Serhan Özyıldırım, Serdar Ceylaner, Memduh Dursun, Sait Mesut Doğan

Anatol J Cardiol. 2022 May; 26(5): 411–413. Published online 2022 May 1. doi: 10.5152/AnatolJCardiol.2021.393

PMCID:: PMC9366415

Article PDF–2.1M

Select item 93024447.

Low Frequency of Fabry disease in patients with common heart disease

Raphael Schiffmann, Caren Swift, Nathan McNeill, Elfrida R. Benjamin, Jeffrey P. Castelli, Jay Barth, Lawrence Sweetman, Xuan Wang, Xiaoyang Wu

Genet Med. Author manuscript; available in PMC 2022 Jul 21.

Published in final edited form as: Genet Med. 2018 Jul; 20(7): 754–759. Published online 2017 Oct 26. doi: 10.1038/gim.2017.175

PMCID:: PMC9302444

Abstract Article PDF–579K

Select item 90346618.

Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)

Kolja Lau, Nurcan Üçeyler, Tereza Cairns, Lora Lorenz, Claudia Sommer, Magnus Schindehütte, Kerstin Amann, Christoph Wanner, Peter Nordbeck

Mol Genet Genomic Med. 2022 May; 10(5): e1912. Published online 2022 Feb 25. doi: 10.1002/mgg3.1912

PMCID:: PMC9034661

Abstract Article PDF–1.4M

Select item 89289769.

Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort

Hiroki Maruyama, Atsumi Taguchi, Mariko Mikame, Atsushi Izawa, Naoki Morito, Kazufumi Izaki, Toshiyuki Seto, Akifumi Onishi, Hitoshi Sugiyama, Norio Sakai, Kenji Yamabe, Yukio Yokoyama, Satoshi Yamashita, Hiroshi Satoh, Shigeru Toyoda, Michihiro Hosojima, Yumi Ito, Ryushi Tazawa, Satoshi Ishii

Curr Issues Mol Biol. 2021 Jun; 43(1): 389–404. Published online 2021 Jun 19. doi: 10.3390/cimb43010032

PMCID:: PMC8928976

Abstract Article PDF–1.7M

Select item 870847810.

Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report

Valeria Di Stefano, Marta Mancarella, Antonia Camporeale, Anna Regalia, Marta Ferraresi, Marco Pisaniello, Elena Cassinerio, Federico Pieruzzi, Irene Motta

Pharmaceuticals (Basel) 2021 Dec; 14(12): 1304. Published online 2021 Dec 14. doi: 10.3390/ph14121304

PMCID:: PMC8708478

Abstract Article PDF–1.2M

Select item 869982711.

The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models

Pedro Besada, María Gallardo-Gómez, Tania Pérez-Márquez, Lucía Patiño-Álvarez, Sergio Pantano, Carlos Silva-López, Carmen Terán, Ana Arévalo-Gómez, Aurora Ruz-Zafra, Julián Fernández-Martín, Saida Ortolano

Biomolecules. 2021 Dec; 11(12): 1856. Published online 2021 Dec 10. doi: 10.3390/biom11121856

PMCID:: PMC8699827

Abstract Article PDF–4.3M

Select item 867067912.

Nationwide screening for Fabry disease in unselected stroke patients

Aleš Tomek, Reková Petra, Jaroslava Paulasová Schwabová, Anna Olšerová, Miroslav Škorňa, Miroslava Nevšímalová, Libor Šimůnek, Roman Herzig, Štěpánka Fafejtová, Petr Mikulenka, Alena Táboříková, Jiří Neumann, Richard Brzezny, Helena Sobolová, Jan Bartoník, Daniel Václavík, Marta Vachová, Karel Bechyně, Hana Havlíková, Tomáš Prax, Daniel Šaňák, Irena Černíková, Iva Ondečková, Petr Procházka, Jan Rajner, Miroslav Škoda, Jan Novák, Ondřej Škoda, Michal Bar, Robert Mikulík, Gabriela Dostálová, Aleš Linhart, on behalf of the National Stroke Research Network, part of Czech Clinical Research Infrastructure Network (CZECRIN) and Czech Neurological Society, Cerebrovascular Section

PLoS One. 2021; 16(12): e0260601. Published online 2021 Dec 14. doi: 10.1371/journal.pone.0260601

PMCID:: PMC8670679

Abstract Article PDF–580K

Select item 859566313.

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

Albina Nowak, Omer Murik, Tzvia Mann, David A. Zeevi, Gheona Altarescu

Sci Rep. 2021; 11: 22372. Published online 2021 Nov 16. doi: 10.1038/s41598-021-01749-7

PMCID:: PMC8595663

Abstract Article PDF–1.0M

Select item 858365814.

α-Galactosidase a Deficiency in Fabry Disease Leads to Extensive Dysregulated Cellular Signaling Pathways in Human Podocytes

Ulrich Jehn, Samet Bayraktar, Solvey Pollmann, Veerle Van Marck, Thomas Weide, Hermann Pavenstädt, Eva Brand, Malte Lenders

Int J Mol Sci. 2021 Nov; 22(21): 11339. Published online 2021 Oct 20. doi: 10.3390/ijms222111339

PMCID:: PMC8583658

Abstract Article PDF–5.8M

Select item 796352915.

Brain MR Imaging Findings of Cardiac-Type Fabry Disease with an IVS4+919G>A Mutation

H.-J. Lee, S.-C. Hung, T.-R. Hsu, S.-C. Ko, T. Chui-Mei, C.-C. Huang, D.-M. Niu, C.-P. Lin

AJNR Am J Neuroradiol. 2016 Jun; 37(6): 1044–1049. doi: 10.3174/ajnr.A4677

PMCID:: PMC7963529

Abstract Article PDF–595K

Select item 795685216.

Reversal of the Inflammatory Responses in Fabry Patient iPSC-Derived Cardiovascular Endothelial Cells by CRISPR/Cas9-Corrected Mutation

Hui-Yung Song, Yi-Ping Yang, Yueh Chien, Wei-Yi Lai, Yi-Ying Lin, Shih-Jie Chou, Mong-Lien Wang, Chien-Ying Wang, Hsin-Bang Leu, Wen-Chung Yu, Chian-Shiu Chien

Int J Mol Sci. 2021 Mar; 22(5): 2381. Published online 2021 Feb 27. doi: 10.3390/ijms22052381

PMCID:: PMC7956852

Abstract Article PDF–6.4M

Select item 785213317.

DNA methylation impact on Fabry disease

Teodolinda Di Risi, Roberta Vinciguerra, Mariella Cuomo, Rosa Della Monica, Eleonora Riccio, Sirio Cocozza, Massimo Imbriaco, Giovanni Duro, Antonio Pisani, Lorenzo Chiariotti

Clin Epigenetics. 2021; 13: 24. Published online 2021 Feb 2. doi: 10.1186/s13148-021-01019-3

PMCID:: PMC7852133

Abstract Article PDF–920K

Select item 761294818.

Circulating phylloquinone, inactive Matrix Gla protein and coronary heart disease risk: a two-sample Mendelian Randomization study

Sabine R. Zwakenberg, Stephen Burgess, Ivonne Sluijs, Elisabete Weiderpass, Joline W.J. Beulens, Yvonne T. van der Schouw

Clin Nutr. Author manuscript; available in PMC 2022 Jul 2.

Published in final edited form as: Clin Nutr. 2020 Apr 1; 39(4): 1131–1136. Published online 2019 May 7. doi: 10.1016/j.clnu.2019.04.024

PMCID:: PMC7612948

Abstract Article PDF–649K

Select item 754960119.

Recurrent fever of unknown origin: An overlooked symptom of Fabry disease

Yi Luo, Di Wu, Min Shen

Mol Genet Genomic Med. 2020 Oct; 8(10): e1454. Published online 2020 Aug 14. doi: 10.1002/mgg3.1454

PMCID:: PMC7549601

Abstract Article PDF–366K

Select item 741862620.

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup

Dominique P Germain, João Paulo Oliveira, Daniel G Bichet, Han-Wook Yoo, Robert J Hopkin, Roberta Lemay, Juan Politei, Christoph Wanner, William R Wilcox, David G Warnock

J Med Genet. 2020 Aug; 57(8): 542–551. Published online 2020 Mar 11. doi: 10.1136/jmedgenet-2019-106467

PMCID:: PMC7418626

Abstract Article PDF–1.5M

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