Ontology highlight
ABSTRACT:
SUBMITTER: Tuttolomondo A
PROVIDER: S-EPMC5617434 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Tuttolomondo Antonino A Simonetta Irene I Duro Giovanni G Pecoraro Rosaria R Miceli Salvatore S Colomba Paolo P Zizzo Carmela C Nucera Antonia A Daidone Mario M Di Chiara Tiziana T Scaglione Rosario R Della Corte Vittoriano V Corpora Francesca F Vogiatzis Danai D Pinto Antonio A
Oncotarget 20170529 37
<h4>Background</h4>Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A. This deficiency, results in the altered metabolism of glycosphingolipids which leads to their accumulation in lysosomes, thus to cellular and vascular dysfunction. To date, numerous mutations (according to recent data more than 1000 mutations) have been reported in the GLA intronic and exonic mutations. Traditi ...[more]