Article
<i>Caenorhabditis elegans</i> functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis
15 Mar 2004
Abstract excerpt
Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disease characterized by severe psychomotor retardation, achlorhydria, and ophthalmological abnormalities. Cells from several tissues in MLIV patients accumulate large vacuoles that are presumed to be lysosomes, but whose exact nature remains to be determined. Other defects include the deterioration of neuronal integrity in the retina and...
Topics
Join the communities discussing this publication.