8
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient.

      1 , , , , ,
      FEBS letters

      Read this article at

      ScienceOpenPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Sialidosis is a lysosomal storage disease caused by the deficiency of alpha-N-acetylneuraminidase (NEU1; sialidase), the key enzyme for the intralysosomal catabolism of sialylated glycoconjugates. We have identified a homozygous transversion in the last intron (IVSE +1 G>C) in neu1 of a sialidosis patient. Sequencing of the truncated cDNA revealed an alternatively spliced neu1 transcript which lacks the complete sequence of exon 5. Skipping of exon 5 leads to a frameshift and results in a premature termination codon. This is the first description of an intronic point mutation causing a complete deficiency of the lysosomal neuraminidase activity.

          Related collections

          Author and article information

          Journal
          FEBS Lett.
          FEBS letters
          0014-5793
          0014-5793
          Jul 20 2001
          : 501
          : 2-3
          Affiliations
          [1 ] Institute of Pathology, University of Heidelberg, Germany. roland_penzel@med.uni-heidelberg.de
          Article
          S0014-5793(01)02645-X
          11470272
          ab94cd2a-71de-4d47-9368-2d8ebb913edb
          History

          Comments

          Comment on this article