Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III.
نویسندگان
چکیده
منابع مشابه
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
A Raas-Rothschild, R Bargal, O Goldman, E Ben-Asher, J E M Groener, A Toutain, E Stemmer, Z Ben-Neriah, H Flusser, F A Beemer, M Penttinen, T Olender, A J J T Rein, G Bach, M Zeigler . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملMislocalization of phosphotransferase as a cause of mucolipidosis III αβ.
The lysosomal storage disorder mucolipidosis III αβ is caused by mutations in the αβ subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (phosphotransferase). This Golgi-localized enzyme mediates the first step in the synthesis of the mannose 6-phosphate recognition marker on lysosomal acid hydrolases, and loss of function results in impaired lysosomal targeting of ...
متن کاملONLINE MUTATION REPORT Genomic organisation of the UDP-N-acetylglucosamine-1- phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III
A Raas-Rothschild, R Bargal, O Goldman, E Ben-Asher, J E M Groener, A Toutain, E Stemmer, Z Ben-Neriah, H Flusser, F A Beemer, M Penttinen, T Olender, A J J T Rein, G Bach, M Zeigler . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملRapid Publication Missense Mutations in N-Acetylglucosamine-1- Phosphotransferase a/b Subunit Gene in a Patient With Mucolipidosis III and a Mild Clinical Phenotype
Rapid Publication Missense Mutations in N-Acetylglucosamine-1Phosphotransferase a/b Subunit Gene in a Patient With Mucolipidosis III and a Mild Clinical Phenotype Stephan Tiede, Nicole Muschol, Gert Reutter, Michael Cantz, Kurt Ullrich, and Thomas Braulke* Department of Biochemistry, Children’s Hospital, University Hospital Hamburg Eppendorf, Hamburg, Germany Department of Rheumatology, Childre...
متن کاملPhosphoenolpyruvate phosphotransferase system and N-acetylglucosamine metabolism in Bacillus sphaericus.
Bacillus sphaericus, a bacterium of biotechnological interest due to its ability to produce mosquitocidal toxins, is unable to use sugars as carbon source. However, ptsHI genes encoding HPr and EI proteins belonging to a PTS were cloned, sequenced and characterized. Both HPr and EI proteins were fully functional for phosphoenolpyruvate-dependent transphosphorylation in complementation assays us...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 1986
ISSN: 0021-9258
DOI: 10.1016/s0021-9258(17)36155-0