A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG

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 hydrolyzes bis-phosphate h...

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Veröffentlicht in:PLoS One
Hauptverfasser: Citro, Valentina, Cimmaruta, Chiara, Liguori, Ludovica, Viscido, Gaetano, Cubellis, Maria Vittoria, Andreotti, Giuseppina
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2017
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5736207/
https://ncbi.nlm.nih.gov/pubmed/29261720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0189629
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