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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2015
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| Materias: | |
| 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 |