Associated Papers
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
Identification of the interaction domains between α- and γ-subunits of GlcNAc-1-phosphotransferase.
Velho RV et al.
Febs Letters, 2016
Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.
De Pace R et al.
Human Molecular Genetics, 2015
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
Velho RV et al.
Human Molecular Genetics, 2015
Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.
Sperb-Ludwig F et al.
Molecular Genetics and Metabolism Reports, 2015
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