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GenomicsGene expression in the femur hip joint articular cartilage of 12-week-old Gnptg-KO mice
Gene expression in the femur hip joint articular cartilage of 12-week-old Gnptg-KO mice
PRJNA660406 | ENA
TranscriptomicsGene expression in the femur hip joint articular cartilage of 12-week-old Gnptg-KO mice
Mucolipidosis type III is a rare disease caused by mutations in the GNPTG gene, encoding the gamma-subunit of GlcNAc-1-phosphotransferase. Since osteoarthritis and joint stiffness are typical symptoms of the disease, we aimed to investigate the role of the gamma-subunit on cartilage homeostasis. We ...
ORGANISM(S): Mus musculus 
2020-10-14 | GSE157180 | GEO
UnknownEvaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering.
Not available
S-EPMC9744500 | biostudies-literature
UnknownAssociation study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.
Not available
S-EPMC4342093 | biostudies-literature
UnknownNext Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.
Not available
S-EPMC5615433 | biostudies-literature
UnknownPathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Not available
S-EPMC8629757 | biostudies-literature
UnknownMucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.
Not available
S-EPMC4907843 | biostudies-literature
ProteomicsLC-MS/MS analysis of Mannose 6-phosphate containing proteins
Mucolipidosis III gamma (MLIII) is clinically characterized by onset of first symptoms at an average of 5 years such as stiffness of hands and shoulders, claw hand deformities, scoliosis and progressive destruction of hip joints. The disease is caused by mutations in GNPTG encoding the gamma-subunit...
ORGANISM(S): Mus musculus (Mouse) 
2018-06-06 | PXD009621 | Pride
Mliii Gnptg M6p Lc-msms Affinitz chromatography 
ProteomicsLC-MS/MS analysis of Mannose 6-phosphate containing proteins
Mucolipidosis III gamma (MLIII) is clinically characterized by onset of first symptoms at an average of 5 years such as stiffness of hands and shoulders, claw hand deformities, scoliosis and progressive destruction of hip joints. The disease is caused by mutations in GNPTG encoding the gamma-subunit...
ORGANISM(S): Mus musculus (Mouse) 
2018-06-06 | PXD007546 | Pride
Secreted proteins : mouse embryonic fibroblasts Mannose 6-phosphate affinity purification 
ProteomicsLC-MS/MS analysis of soluble lysosomal enzymes
Mucolipidosis III gamma (MLIII) is clinically characterized by onset of first symptoms at an average of 5 years such as stiffness of hands and shoulders, claw hand deformities, scoliosis and progressive destruction of hip joints. The disease is caused by mutations in GNPTG encoding the gamma-subunit...
ORGANISM(S): Mus musculus (Mouse) 
2018-06-07 | PXD007547 | Pride
Mucolipidosis Lysosomal proteomics 
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