Associated Papers
Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.
Terawaki S et al.
International Journal of Molecular Sciences, 2025
Mucolipidosis type II and type III: a systematic review of 843 published cases.
Dogterom EJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
Pasumarthi D et al.
Journal of Human Genetics, 2020
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
Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
Wang Y et al.
Acta Pharmacologica Sinica, 2019
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Ludwig NF et al.
The International Journal of Biochemistry & Cell Biology, 2017
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
Yang M et al.
Orphanet Journal of Rare Diseases, 2017
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta.
Shibazaki T et al.
American Journal of Medical Genetics. Part A, 2016
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
An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism.
Hara M et al.
Brain & Development, 2013
Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts.
Otomo T et al.
Molecular Genetics and Metabolism, 2009
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
Tappino B et al.
Human Mutation, 2009
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
Otomo T et al.
Journal of Human Genetics, 2009
MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE.
Nur BG et al.
Genetic Counseling (geneva, Switzerland), 0