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

ABSTRACT: Fabry disease (FD) is a rare X-linked disease due to a multiverse of disrupting mutations within the GLA 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 results in a progressive multisystem disease. Known disease-associated point mutations in protein-coding gene regions usually cause translational perturbations and result in premature chain termination, punctual amino acid sequence alterations or overall altered sequence alterations downstream of the mutation site. However, nucleotide exchanges at the border between introns and exons can affect splicing behavior and lead to abnormal pre-mRNA processing. Prediction with the Human Splicing Finder (HSF) revealed an i

SUBMITTER: Alfen F 

PROVIDER: S-EPMC9737616 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature