Article
Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells.
The Journal of biological chemistry - 27 Aug 2004
Seyrantepe Volkan, Landry Karine, Trudel Stéphanie, Hassan Jacob A, Morales Carlos R, Pshezhetsky Alexey V
Abstract excerpt
Three different mammalian sialidases have been described as follows: lysosomal (Neu1, gene NEU1), cytoplasmic (Neu2, gene NEU2), and plasma membrane (Neu3, gene NEU3). Because of mutations in the NEU1 gene, the inherited deficiency of Neu1 in humans causes the severe multisystemic neurodegenerative disorder sialidosis. Galactosialidosis, a clinically similar disorder, is caused by the secondary Neu1 deficiency...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.