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267 results for alpha-Galactosidase+-+metabolism

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Cardiac manifestations of Fabry disease in G3Stg/GlaKO and GlaKO mouse models–Translation to Fabry disease patients
Author / Creator:Kugadas, Abirami ; Artoni, Pietro ; Ruangsiriluk, Wanida ; Zhao, Meng ; Boukharov, Natalia ; Islam, Rizwana ; Volfson, Dmitri ; Derakhchan, Katayoun
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-05, Vol.19 (5), p.e0304415
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Human kidney organoids reveal the role of glutathione in Fabry disease
Author / Creator:Kim, Jin Won ; Kim, Hyung Wook ; Nam, Sun Ah ; Lee, Jong Young ; Cho, Hae Jin ; Kim, Tae-Min ; Kim, Yong Kyun
Publisher:London: Nature Publishing Group UK
Journal title:Experimental and Molecular Medicine, 2021, 53(0), , pp.1-12
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Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy
Author / Creator:Braun, Fabian ; Abed, Ahmed ; Sellung, Dominik ; Rogg, Manuel ; Woidy, Mathias ; Eikrem, Oysten ; Wanner, Nicola ; Gambardella, Jessica ; Laufer, Sandra D. ; Haas, Fabian ; Wong, Milagros N. ; Dumoulin, Bernhard ; Rischke, Paula ; Mühlig, Anne ; Sachs, Wiebke ; von Cossel, Katharina ; Schulz, Kristina ; Muschol, Nicole ; Gersting, Sören W. ; Muntau, Ania C. ; Kretz, Oliver ; Hahn, Oliver ; Rinschen, Markus M. ; Mauer, Michael ; Bork, Tillmann ; Grahammer, Florian ; Liang, Wei ; Eierhoff, Thorsten ; Römer, Winfried ; Hansen, Arne ; Meyer-Schwesinger, Catherine ; Iaccarino, Guido ; Tøndel, Camilla ; Marti, Hans-Peter ; Najafian, Behzad ; Puelles, Victor G. ; Schell, Christoph ; Huber, Tobias B.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2023-06, Vol.133 (11)
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Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry
Author / Creator:Ortiz, Alberto ; Abiose, Ademola ; Bichet, Daniel G ; Cabrera, Gustavo ; Charrow, Joel ; Germain, Dominique P ; Hopkin, Robert J ; Jovanovic, Ana ; Linhart, Aleš ; Maruti, Sonia S ; Mauer, Michael ; Oliveira, João P ; Patel, Manesh R ; Politei, Juan ; Waldek, Stephen ; Wanner, Christoph ; Yoo, Han-Wook ; Warnock, David G
Publisher:England: BMJ Publishing Group
Journal title:Journal of medical genetics, 2016-07, Vol.53 (7), p.495-502
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Chaperone Therapy in Fabry Disease
Author / Creator:Weidemann, Frank ; Jovanovic, Ana ; Herrmann, Ken ; Vardarli, Irfan
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-02, Vol.23 (3), p.1887
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Fabry's disease
Author / Creator:Zarate, Yuri A, MD ; Hopkin, Robert J, Dr
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 2008-10, Vol.372 (9647), p.1427-1435
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Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease
Author / Creator:Lukas, Jan ; Giese, Anne-Katrin ; Markoff, Arseni ; Grittner, Ulrike ; Kolodny, Ed ; Mascher, Hermann ; Lackner, Karl J. ; Meyer, Wolfgang ; Wree, Phillip ; Saviouk, Viatcheslav ; Rolfs, Arndt
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2013-08, Vol.9 (8), p.e1003632
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Preclinical evaluation of FLT190, a liver-directed AAV gene therapy for Fabry disease
Author / Creator:Jeyakumar, Jey M. ; Kia, Azadeh ; Tam, Lawrence C. S. ; McIntosh, Jenny ; Spiewak, Justyna ; Mills, Kevin ; Heywood, Wendy ; Chisari, Elisa ; Castaldo, Noemi ; Verhoef, Daniël ; Hosseini, Paniz ; Kalcheva, Petya ; Cocita, Clement ; Miranda, Carlos J. ; Canavese, Miriam ; Khinder, Jaminder ; Rosales, Cecilia ; Hughes, Derralynn ; Sheridan, Rose ; Corbau, Romuald ; Nathwani, Amit
Publisher:London: Nature Publishing Group UK
Journal title:Gene therapy, 2023-06, Vol.30 (6), p.487-502
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Dirichlet latent modelling enables effective learning and sampling of the functional protein design space
Author / Creator:Lobzaev, Evgenii ; Stracquadanio, Giovanni
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-10, Vol.15 (1), p.9309-11, Article 9309
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Fabry’s Disease
Author / Creator:Soloway, Stephen ; Lister, Denise
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2024-09, Vol.391 (11), p.1038-1038
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Tick galactosyltransferases are involved in α-Gal synthesis and play a role during Anaplasma phagocytophilum infection and Ixodes scapularis tick vector development
Author / Creator:Cabezas-Cruz, Alejandro ; Espinosa, Pedro J. ; Alberdi, Pilar ; Šimo, Ladislav ; Valdés, James J. ; Mateos-Hernández, Lourdes ; Contreras, Marinela ; Rayo, Margarita Villar ; de la Fuente, José
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-09, Vol.8 (1), p.14224-18, Article 14224
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Identification of Four New Mutations in the GLA Gene Associated with Anderson–Fabry Disease
Author / Creator:Anania, Monia ; Pieruzzi, Federico ; Giacalone, Irene ; Trezzi, Barbara ; Marsana, Emanuela Maria ; Roggero, Letizia ; Francofonte, Daniele ; Stefanoni, Michele ; Vinci, Martina ; Zizzo, Carmela ; Zora, Marcomaria ; Di Chiara, Tiziana ; Duro, Giulia ; Duro, Giovanni ; Colomba, Paolo
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-01, Vol.26 (2), p.473
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The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson–Fabry Disease: A Clinical and Molecular Study
Author / Creator:Giacalone, Irene ; Ruzzi, Luigina ; Anania, Monia ; Cuonzo, Mariateresa ; Marsana, Emanuela Maria ; Mastrippolito, Silvia ; Francofonte, Daniele ; Bucco, Silvia ; D’Errico, Annalisa ; Longo, Maria Olimpia ; Zizzo, Carmela ; Iarlori, Luigia ; Duro, Giovanni ; Colomba, Paolo
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-01, Vol.26 (2), p.470
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Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies
Author / Creator:Borisch, Carla ; Thum, Thomas ; Bär, Christian ; Hoepfner, Jeannine
Publisher:England: BioMed Central Ltd
Journal title:Journal of translational medicine, 2024-10, Vol.22 (1), p.965-17, Article 965
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Status and frontiers of Fabre disease
Author / Creator:Chu, Wei ; Chen, Min ; Lv, Xiaoqin ; Lu, Sheng ; Wang, Changyan ; Yin, Limin ; Qian, Linyan ; Shi, Jiana
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-03, Vol.20 (1), p.123-7, Article 123
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Evaluation of the Impact of an Enzymatic Preparation Catalyzing the Decomposition of Raffinose from Poor-Quality Beets during the White Sugar Production Process
Author / Creator:Jaśkiewicz, Andrzej ; Kunicka-Styczyńska, Alina ; Baryga, Andrzej ; Gruska, Radosław Michał ; Brzeziński, Stanisław ; Świącik, Beata
Publisher:Switzerland: MDPI AG
Journal title:Molecules (Basel, Switzerland), 2024-08, Vol.29 (15), p.3526
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Glycosphingolipids and their impact on platelet activity in a murine model of fabry disease
Author / Creator:Kanack, Adam J. ; Prodoehl, Eve ; Ishihara-Aoki, Mayumi ; Aoki, Kazuhiro ; Dahms, Nancy M.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-11, Vol.14 (1), p.29488-17, Article 29488
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Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease
Author / Creator:Monticelli, Maria ; Hay Mele, Bruno ; Allocca, Mariateresa ; Liguori, Ludovica ; Lukas, Jan ; Monti, Maria Chiara ; Morretta, Elva ; Cubellis, Maria Vittoria ; Andreotti, Giuseppina
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-01, Vol.24 (2), p.1095
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Optimizing human α-galactosidase for treatment of Fabry disease
Author / Creator:Hallows, William C. ; Skvorak, Kristen ; Agard, Nick ; Kruse, Nikki ; Zhang, Xiyun ; Zhu, Yu ; Botham, Rachel C. ; Chng, Chinping ; Shukla, Charu ; Lao, Jessica ; Miller, Mathew ; Sero, Antoinette ; Viduya, Judy ; Ismaili, Moulay Hicham Alaoui ; McCluskie, Kerryn ; Schiffmann, Raphael ; Silverman, Adam P. ; Shen, Jin-Song ; Huisman, Gjalt W.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-03, Vol.13 (1), p.4748-4748, Article 4748
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Lectin-Based Substrate Detection in Fabry Disease Using the Gb3-Binding Lectins StxB and LecA
Author / Creator:Elçin-Guinot, Serap ; Lagies, Simon ; Avi-Guy, Yoav ; Neugebauer, Daniela ; Huber, Tobias B. ; Schell, Christoph ; Kammerer, Bernd ; Römer, Winfried
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-03, Vol.26 (5), p.2272
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Cardiac manifestations of Fabry disease in G3Stg/GlaKO and GlaKO mouse models–Translation to Fabry disease patients

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Human kidney organoids reveal the role of glutathione in Fabry disease

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Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

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Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

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Chaperone Therapy in Fabry Disease

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Fabry's disease

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Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

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Preclinical evaluation of FLT190, a liver-directed AAV gene therapy for Fabry disease

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Dirichlet latent modelling enables effective learning and sampling of the functional protein design space

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Fabry’s Disease

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Tick galactosyltransferases are involved in α-Gal synthesis and play a role during Anaplasma phagocytophilum infection and Ixodes scapularis tick vector development

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Identification of Four New Mutations in the GLA Gene Associated with Anderson–Fabry Disease

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The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson–Fabry Disease: A Clinical and Molecular Study

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Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies

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Status and frontiers of Fabre disease

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Evaluation of the Impact of an Enzymatic Preparation Catalyzing the Decomposition of Raffinose from Poor-Quality Beets during the White Sugar Production Process

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Glycosphingolipids and their impact on platelet activity in a murine model of fabry disease

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Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease

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Optimizing human α-galactosidase for treatment of Fabry disease

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Lectin-Based Substrate Detection in Fabry Disease Using the Gb3-Binding Lectins StxB and LecA

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