Mucolipidosis III GNPTG missense mutations cause misfolding of the γ subunit of GlcNAc-1-phosphotransferase

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van Meel, Eline; Kornfeld, Stuart;

The lysosomal storage disorder mucolipidosis III γ is caused by defects in the γ subunit of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, the enzyme that tags lysosomal enzymes with the mannose 6-phosphate lysosomal targeting signal. In patients ... View more
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