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...

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Detalles Bibliográficos
Autores principales: Andreotti, Giuseppina, Monti, Maria Chiara, Citro, Valentina, Cubellis, Maria Vittoria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4619449/
https://www.ncbi.nlm.nih.gov/pubmed/26488408
http://dx.doi.org/10.1371/journal.pone.0139882

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4619449/
https://www.ncbi.nlm.nih.gov/pubmed/26488408
http://dx.doi.org/10.1371/journal.pone.0139882

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