Associated Papers
Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins.
Pechincha C et al.
Science (new York, N.y.), 2022
36074822 (PubMed )
Supplement: science.abn5637_sm.pdf
Mucolipidoses Overview: Past, Present, and Future.
Khan SA et al.
International Journal of Molecular Sciences, 2020
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Velho RV et al.
Human Mutation, 2019
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
Qian Y et al.
The Journal of Biological Chemistry, 2015
Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.
van Meel E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy.
Kerr DA et al.
Archives of Pathology & Laboratory Medicine, 2011
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
Cathey SS et al.
Journal of Medical Genetics, 2010
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