| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Albert Frank Magnusen, Manoj Kumar Pande. Complement System and Adhesion Molecule Skirmishes in Fabry Disease: Insights into Pathogenesis and Disease Mechanisms. International journal of molecular sciences. vol 25. issue 22. 2024-11-27. PMID:39596318. |
fabry disease is a rare x-linked lysosomal storage disorder caused by mutations in the galactosidase alpha ( |
2024-11-27 |
2024-11-29 |
Not clear |
| Evgenii Lobzaev, Giovanni Stracquadani. Dirichlet latent modelling enables effective learning and sampling of the functional protein design space. Nature communications. vol 15. issue 1. 2024-10-29. PMID:39468034. |
we then use tdvae to design variants of the human alpha galactosidase enzymes as potential treatment for fabry disease. |
2024-10-29 |
2024-10-31 |
human |
| L Gao, Z Lu, Y Zhang, L Liu, J Sun, H Fu, J Mao, L H. Clinical characteristics and induced pluripotent stem cells (iPSCs) disease model of Fabry disease caused by a novel GLA mutation. QJM : monthly journal of the Association of Physicians. vol 117. issue 8. 2024-09-11. PMID:38429952. |
fabry disease (fd) is a rare x-linked inherited disease caused by mutations in the galactosidase alpha (gla) gene. |
2024-09-11 |
2024-09-14 |
Not clear |
| Seamas C Donnell. Novel functional mutations of the galactosidase alpha (GLA) gene in Fabry disease. QJM : monthly journal of the Association of Physicians. vol 117. issue 8. 2024-09-11. PMID:39259910. |
novel functional mutations of the galactosidase alpha (gla) gene in fabry disease. |
2024-09-11 |
2024-09-14 |
Not clear |
| Giovanna Muscogiuri, Oriana De Marco, Tonia Di Lorenzo, Maria Amicone, Ivana Capuano, Eleonora Riccio, Guido Iaccarino, Antonio Bianco, Teodolinda Di Risi, Antonio Pisan. Diet and Physical Activity in Fabry Disease: A Narrative Review. Nutrients. vol 16. issue 7. 2024-04-13. PMID:38613094. |
fabry disease (fd) is caused by mutations in the galactosidase alpha (gla) gene which lead to the accumulation of globotriaosylceramide (gb-3). |
2024-04-13 |
2024-04-15 |
Not clear |
| Menno Ter Huurne, Benjamin L Parker, Ning Qing Liu, Elizabeth Ling Qian, Celine Vivien, Kathy Karavendzas, Richard J Mills, Jennifer T Saville, Dad Abu-Bonsrah, Andrea F Wise, James E Hudson, Andrew S Talbot, Patrick F Finn, Paolo G V Martini, Maria Fuller, Sharon D Ricardo, Kevin I Watt, Kathy M Nicholls, Enzo R Porrello, David A Elliot. GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals. American journal of human genetics. 2023-08-22. PMID:37607539. |
here, we assessed the efficacy of a modrna treatment to restore the expression of the galactosidase alpha (gla), which codes for α-galactosidase a (α-gal) enzyme, in a human cardiac model generated from induced pluripotent stem cells (ipscs) derived from two individuals with fabry disease. |
2023-08-22 |
2023-09-07 |
human |
| Merve Emecen Sanli, Ayse Kilic, Asli Inci, Ilyas Okur, Fatih Ezgu, Leyla Tume. Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy. Journal of pediatric endocrinology & metabolism : JPEM. 2023-05-31. PMID:37257483. |
fabry disease is an x-linked lysosomal disorder caused by decreased or absent alpha galactosidase enzyme. |
2023-05-31 |
2023-08-14 |
Not clear |
| Lina Palaiodimou, Maria-Ioanna Stefanou, Eleni Bakola, Marianna Papadopoulou, Panagiotis Kokotis, Agathi-Rosa Vrettou, Eleni Kapsia, Dimitrios Petras, Aris Anastasakis, Nikolaos Xifaras, Eleni Karachaliou, Giota Touloumi, Charalambos Vlachopoulos, Ioannis N Boletis, Sotirios Giannopoulos, Georgios Tsivgoulis, Christina Zompol. Neurology. vol 99. issue 19. 2022-11-07. PMID:36344272. |
there is accumulating evidence in the literature indicating a strong correlation between fabry disease (fd) phenotypes and specific sequence variations in the galactosidase alpha ( |
2022-11-07 |
2023-08-14 |
Not clear |
| Vittoria Cianci, Angelo Pascarella, Sara Gasparini, Vincenzo Donadio, Rocco Liguori, Alex Incensi, Carmelo Massimiliano Rao, Claudio Franzutti, Giuseppe Scappatura, Umberto Aguglia, Edoardo Ferlazz. Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene. Metabolic brain disease. 2022-09-30. PMID:36178639. |
fabry disease is a rare x-linked lysosomal storage disorder due to pathogenic variants of the galactosidase alpha (gla) gene, leading to a deficiency of alpha-galactosidase a. |
2022-09-30 |
2023-08-14 |
Not clear |
| Maria Monticelli, Ludovica Liguori, Mariateresa Allocca, Andrea Bosso, Giuseppina Andreotti, Jan Lukas, Maria Chiara Monti, Elva Morretta, Maria Vittoria Cubellis, Bruno Hay Mel. Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones. International journal of molecular sciences. vol 23. issue 9. 2022-05-14. PMID:35563496. |
fabry disease is caused by a deficiency of lysosomal alpha galactosidase and has a very large genotypic and phenotypic spectrum. |
2022-05-14 |
2023-08-13 |
Not clear |
| Cláudia Ferreira Tátá, Margarida Massas, Filipa Pinto, Nuno Caçador, Ana Luisa Silv. Fabry Disease: A Atypical Presentation. Cureus. vol 13. issue 10. 2021-11-19. PMID:34790463. |
fabry disease (fd) is a rare x-linked recessive disease caused by mutations in the gla gene that lead to a decrease or lack of activity of the enzyme alpha galactosyl a. |
2021-11-19 |
2023-08-13 |
Not clear |
| Jin Won Kim, Hyung Wook Kim, Sun Ah Nam, Jong Young Lee, Hae Jin Cho, Tae-Min Kim, Yong Kyun Ki. Human kidney organoids reveal the role of glutathione in Fabry disease. Experimental & molecular medicine. vol 53. issue 10. 2021-11-18. PMID:34654880. |
fabry disease is an x-linked lysosomal storage disease caused by a mutation in the galactosidase alpha (gla) gene. |
2021-11-18 |
2023-08-13 |
human |
| Robert Nisticò, Antonio Pisan. [The treatment for Fabry disease: focus on agalsidase alpha and beta]. Recenti progressi in medicina. vol 112. issue 10. 2021-10-14. PMID:34647542. |
[the treatment for fabry disease: focus on agalsidase alpha and beta]. |
2021-10-14 |
2023-08-13 |
Not clear |
| Nilton Salles Rosa Neto, Judith Campos de Barros Bento, Valéria de Falco Caparbo, Rosa Maria Rodrigues Pereir. Increased Serum Interleukin-6 and Tumor Necrosis Factor Alpha Levels in Fabry Disease: Correlation with Disease Burden. Clinics (Sao Paulo, Brazil). vol 76. 2021-08-03. PMID:34287477. |
increased serum interleukin-6 and tumor necrosis factor alpha levels in fabry disease: correlation with disease burden. |
2021-08-03 |
2023-08-13 |
Not clear |
| Roberto Chimenz, Valeria Chirico, Caterina Cuppari, Giorgia Ceravolo, Daniela Concolino, Paolo Monardo, Antonio Lacquanit. Fabry disease and kidney involvement: starting from childhood to understand the future. Pediatric nephrology (Berlin, Germany). 2021-04-30. PMID:33928440. |
the accumulation of globotriaosylceramide (gb-3) in multiple organs, such as the heart, kidney, and nervous system, due to mutations in the galactosidase alpha (gla) gene, represents the key point of fabry disease (fd). |
2021-04-30 |
2023-08-13 |
Not clear |
| Young-Kyu Kim, Ji Hoon Yu, Sang-Hyun Min, Sang-Wook Par. Generation of a GLA knock-out human-induced pluripotent stem cell line, KSBCi002-A-1, using CRISPR/Cas9. Stem cell research. vol 42. 2020-12-04. PMID:31841972. |
fabry disease is an x-linked inherited disease caused by a mutation in the galactosidase alpha (gla) gene. |
2020-12-04 |
2023-08-13 |
Not clear |
| Cumali Degirmenci, Suzan Guven Yilmaz, Huseyin Onay, Melis Palamar, Sema Kalkan Ucar, Meral Kayikcioglu, Mahmut Coke. A novel mutation and in vivo confocal microscopic findings in Fabry disease. Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society. vol 31. issue 1. 2020-10-01. PMID:28337063. |
fabry disease is a hereditary, x-linked lysosomal storage disease due to a deficiency of the alpha galactosidase a enzyme. |
2020-10-01 |
2023-08-13 |
Not clear |
| Lothar Hauth, Jeroen Kerstens, Laetitia Yperzeele, François Eyskens, Paul M Parizel, Barbara Willeken. Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age. Frontiers in neurology. vol 9. 2020-10-01. PMID:29867742. |
galactosidase alpha p.a143t variant fabry disease may result in a phenotype with multifocal microvascular cerebral involvement at a young age. |
2020-10-01 |
2023-08-13 |
Not clear |
| Lothar Hauth, Jeroen Kerstens, Laetitia Yperzeele, François Eyskens, Paul M Parizel, Barbara Willeken. Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age. Frontiers in neurology. vol 9. 2020-10-01. PMID:29867742. |
the diagnosis of fabry disease (fd) was suggested upon the finding of significantly reduced plasma alpha-galactosidase a activity (0.62 µmol/l or 13% of normal; normal range ≥ 1.65 μmol/l) and genetic investigation confirmed the presence of a hemizygous missense variant in the galactosidase alpha (gla) gene (p.a143t). |
2020-10-01 |
2023-08-13 |
Not clear |
| Kassiani Kytidou, Thomas J M Beenakker, Lotte B Westerhof, Cornelis H Hokke, Geri F Moolenaar, Nora Goosen, Mina Mirzaian, Maria J Ferraz, Mark de Geus, Wouter W Kallemeijn, Herman S Overkleeft, Rolf G Boot, Arjen Schots, Dirk Bosch, Johannes M F G Aert. Human Alpha Galactosidases Transiently Produced in Frontiers in plant science. vol 8. 2020-09-30. PMID:28680430. |
human alpha galactosidases transiently produced in deficiency of α-galactosidase a (α-gal) causes fabry disease (fd), an x-linked storage disease of the glycosphingolipid globtriaosylcerammide (gb3) in lysosomes of various cells and elevated plasma globotriaosylsphingosine (lyso-gb3) toxic for podocytes and nociceptive neurons. |
2020-09-30 |
2023-08-13 |
human |