The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase

The implementation of expanded newborn screening programs reduced mortality and morbidity in medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by mutations in the ACADM gene. However, the disease is still potentially fatal. Missense induced MCADD is a protein misfolding disease with a mo...

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Détails bibliographiques
Auteurs principaux: Jank, Johanna M., Maier, Esther M., Reiß, Dunja D., Haslbeck, Martin, Kemter, Kristina F., Truger, Marietta S., Sommerhoff, Christian P., Ferdinandusse, Sacha, Wanders, Ronald J., Gersting, Søren W., Muntau, Ania C.
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2014
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3981736/
https://ncbi.nlm.nih.gov/pubmed/24718418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0093852
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