Article
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.
Molecular genetics and metabolism - 1 Apr 2016
Ko Ah-Ra, Jin Dong-Kyu, Cho Sung Yoon, Park Sung Won, Przybylska Malgorzata, Yew Nelson S, Cheng Seng H, Kim Jung-Sun, Kwak Min Jung, Kim Su Jin, Sohn Young Bae
Abstract excerpt
Mucolipidoses II and III (ML II and ML III) 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...
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