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17 p, 1.2 MB Human α-galactosidase a mutants : Priceless tools to develop novel therapies for fabry disease / Modrego, Andrea (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Amaranto, Marilla (Universidad Nacional de Córdoba (Argentina)) ; Godino, Agustina (Universidad Nacional de Córdoba (Argentina)) ; Mendoza, Rosa (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Barra, José Luis (Universidad Nacional de Córdoba (Argentina)) ; Corchero Nieto, José Luis (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Fabry disease (FD) is a lysosomal storage disease caused by mutations in the gene for the α-galactosidase A (GLA) enzyme. The absence of the enzyme or its activity results in the accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), in different tissues, leading to a wide range of clinical manifestations. [...]
2021 - 10.3390/ijms22126518
International journal of molecular sciences, Vol. 22, Issue 12 (June 2021) , art. 6518  

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