Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations

Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations

Fabry disease (FD) is a rare X-linked disease due to a multiverse of disrupting mutations within the <i>GLA</i> gene encoding lysosomal α-galactosidase A (AGAL). Absent AGAL activity causes the accumulation of complex glycosphingolipids inside of lysosomes in a variety of cell types and...

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Bibliographic Details
Main Authors: Franziska Alfen, Elena Putscher, Michael Hecker, Uwe Klaus Zettl, Andreas Hermann, Jan Lukas
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:International Journal of Molecular Sciences
Subjects:
missense mutation
alternative splicing
α-galactosidase A
exon skipping
intron inclusion
pharmacological chaperone
Online Access:https://www.mdpi.com/1422-0067/23/23/15261

Internet

https://www.mdpi.com/1422-0067/23/23/15261

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