A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG
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DOI: 10.1371/journal.pone.0189629
Abstract: The most frequent disorder of glycosylation, PMM2-CDG, is caused by a deficiency of phosphomannomutase activity. In humans two paralogous enzymes exist, both of them require mannose 1,6-bis-phosphate or glucose 1,6-bis-phosphate as activators, but only phospho-mannomutase1… read more here.
Keywords: pmm2 cdg; activity; bis phosphate; mutant phosphomannomutase1 ... See more keywords