Article
Comparative pathology of murine mucolipidosis types II and IIIC.
Veterinary pathology - 1 Mar 2009
Vogel P, Payne B J, Read R, Lee W-S, Gelfman C M, Kornfeld S
Abstract excerpt
UDP-GlcNAc: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase) is an alpha(2)beta(2)gamma(2) hexameric enzyme that catalyzes the first step in the synthesis of the mannose 6-phosphate targeting signal on lysosomal hydrolases. In humans, mutations in the gene encoding the alpha/beta subunit precursor give rise to mucolipidosis II (MLII), whereas mutations in the gene encoding...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
