Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.

@article{Bassi2000CloningOT,
  title={Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.},
  author={Maria Teresa Bassi and Marta Manzoni and Elena Monti and Maria Teresa Pizzo and Andrea Ballabio and Giuseppe Borsani},
  journal={American journal of human genetics},
  year={2000},
  volume={67 5},
  pages={1110-20}
}
Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration, and strabismus. Unlike the situation in other lysosomal disorders, the accumulation of heterogeneous storage material observed in MLIV does not result from a block in the catabolic pathways but is due to an ill-defined transport defect in the late steps of endocytosis. With the aim of… CONTINUE READING

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