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

Stephan Tiede, Stephan Storch, Torben Lübke, Bernard Henrissat, Ruth Bargal, Annick Raas‐Rothschild, Thomas Braulke

Nature Medicine · 2005 · 210 citations · 14 references

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The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

Andrej Hasilík, Elizabeth F. Neufeld · Journal of Biological Chemistry · 1980 · 805 citations · Full text

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Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency

Torben Lübke, Thorsten Marquardt, Amos Etzioni et al. · Nature Genetics · 2001 · 343 citations · Full text

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Lysosome biogenesis requires Rab9 function and receptor recycling from endosomes to the trans-Golgi network.

Markus A. Riederer, Thierry Soldati, Allan D. Shapiro et al. · The Journal of Cell Biology · 1994 · 310 citations · Full text

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Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

Annick Raas‐Rothschild, Valérie Cormier‐Daire, Ming Bao et al. · Journal of Clinical Investigation · 2000 · 198 citations · Full text

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