Article
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
Molecular genetics and metabolism - 1 Aug 2006
Bargal Ruth, Zeigler Marsha, Abu-Libdeh Bassam, Zuri Vivi, Mandel Hanna, Ben Neriah Ziva, Stewart Fiona, Elcioglu Nursel, Hindi Tareq, Le Merrer Martine, Bach Gideon, Raas-Rothschild Annick
Abstract excerpt
Mucolipidosis II (ML II) and Mucolipidosis type III (ML III) are autosomal recessive disorders of lysosomal hydrolases trafficking due to the deficiency of the multimeric enzyme, UDP-N-acetylglucosamine-1-phosphotransferase. The alpha/beta subunits encoded by the GNPTA gene is the catalytic subunit of the enzyme while the gamma recognition subunit is encoded by the GNPTAG gene. We report the molecular analysis of...
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