α-Galactosidase Aggregation Is a Determinant of Pharmacological Chaperone Efficacy on Fabry Disease Mutants

Fabry disease is a lysosomal storage disorder caused by loss of α-galactosidase function. More than 500 Fabry disease mutants have been identified, the majority of which are structurally destabilized. A therapeutic strategy under development for lysosomal storage diseases consists of using pharmacol...

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Autors principals: Siekierska, Aleksandra, De Baets, Greet, Reumers, Joke, Gallardo, Rodrigo, Rudyak, Stanislav, Broersen, Kerensa, Couceiro, Jose, Van Durme, Joost, Schymkowitz, Joost, Rousseau, Frederic
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2012
Matèries:
Molecular Bases of Disease
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3436532/
https://ncbi.nlm.nih.gov/pubmed/22773828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.351056
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