Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis.

@article{Treusch2004CaenorhabditisEF,
  title={Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis.},
  author={Sebastian Treusch and Sarah Knuth and Susan A. Slaugenhaupt and Ehud Goldin and Barth D Grant and Hanna Fares},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2004},
  volume={101 13},
  pages={4483-8}
}
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 the cerebellum. MCOLN1, the gene mutated in MLIV patients, encodes a protein called h… CONTINUE READING
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