Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2

The most frequent disorder of glycosylation is due to mutations in the gene encoding phosphomannomutase2 (PMM2-CDG). For this disease, which is autosomal and recessive, there is no cure at present. Most patients are composite heterozygous and carry one allele encoding an inactive mutant, R141H, and...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:PLoS One
Hauptverfasser: Andreotti, Giuseppina, Monti, Maria Chiara, Citro, Valentina, Cubellis, Maria Vittoria
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2015
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4619449/
https://ncbi.nlm.nih.gov/pubmed/26488408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0139882
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge