The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.

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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Bibliographic Details
Main Authors: Johanna M Jank, Esther M Maier, Dunja D Reiβ, Martin Haslbeck, Kristina F Kemter, Marietta S Truger, Christian P Sommerhoff, Sacha Ferdinandusse, Ronald J Wanders, Søren W Gersting, Ania C Muntau
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3981736?pdf=render

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