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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...
Tallennettuna:
| Julkaisussa: | PLoS One |
|---|---|
| Päätekijät: | , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Public Library of Science
2015
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| Aiheet: | |
| Linkit: | 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 |
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