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Literature summary for 2.7.8.17 extracted from

  • Ko, A.R.; Jin, D.K.; Cho, S.Y.; Park, S.W.; Przybylska, M.; Yew, N.S.; Cheng, S.H.; Kim, J.S.; Kwak, M.J.; Kim, S.J.; Sohn, Y.B.
    AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II (2016), Mol. Genet. Metab., 117, 447-455.
    View publication on PubMed

Application

Application Comment Organism
medicine AAV-mediated expression of gene GNPTAB in mucolipidosis II, ML II, mice can attenuate bone loss via inhibition of IL-6 production Mus musculus

Cloned(Commentary)

Cloned (Comment) Organism
gene GNTPAB encoding the alpha/beta-subunits, quantitative real-time PCR expression analysis, recombinant expression of nucleotides 8-3715 Mus musculus

Protein Variants

Protein Variants Comment Organism
additional information generation of GNTPAB knock-out mice Mus musculus

Organism

Organism UniProt Comment Textmining
Mus musculus Q69ZN6 gene GNTPAB
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Synonyms

Synonyms Comment Organism
GNTPAB
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Mus musculus
N-acetylglucosamine-1-phosphate transferase
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Mus musculus

General Information

General Information Comment Organism
malfunction mucolipidoses II and III (ML II and MLIII) are lysosomal disorders in which the mannose 6-phosphate recognition marker is absent from lysosomal hydrolases and other glycoproteins due to mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase. Both disorders are caused by the same gene, but ML II represents the more severe phenotype. Bone manifestations of ML II include hip dysplasia, scoliosis, rickets and osteogenesis imperfecta, phhentype overview. A recombinant adeno-associated viral vector (AAV2/8-GNPTAB) confers high and prolonged gene expression of GNPTAB and thereby influence the pathology in the cartilage and bone tissue of a GNPTAB knock out (KO) mouse model. AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II with significant increases in bone mineral density and content Mus musculus