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    Article

    Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase

    Mucolipidosis II (ML II) is a fatal lysosomal storage disorder resulting from defects in the multimeric GlcNAc-1-phosphotransferase responsible for the initial step in the generation of the mannose 6-phosphate...

    Stephan Tiede, Stephan Storch, Torben Lübke, Bernard Henrissat… in Nature Medicine (2005)

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    Article

    Identification of the gene causing mucolipidosis type IV

    Mucolipidosis type IV (MLIV) is an autosomal recessive, neurodegenerative, lysosomal storage disorder1 characterized by psychomotor retardation and ophthalmological abnormalities including corneal opacities, reti...

    Ruth Bargal, Nili Avidan, Edna Ben-Asher, Zvia Olender, Marcia Zeigler… in Nature Genetics (2000)