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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Bibliografiska uppgifter
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2014
Ämnen:
Research Article
Länkar: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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