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

Fabry disease is an X-linked multisystemic disorder caused by the impairment of lysosomal α-Galactosidase A, which leads to the progressive accumulation of glycosphingolipids and to defective lysosomal metabolism. Currently, Fabry disease is treated by enzyme replacement therapy or the orally admini...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	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
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	MDPI AG 2021-12-01
Sarja:	Biomolecules
Aiheet:	Fabry disease pharmacological chaperones <i>GLA</i> variants Migalastat lysosomal storage diseases
Linkit:	https://www.mdpi.com/2218-273X/11/12/1856
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