Jank JM - Search Results

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

Jank JM, Maier EM, Reiβ DD, Haslbeck M, Kemter KF, Truger MS, Sommerhoff CP, Ferdinandusse S, Wanders RJ, Gersting SW, Muntau AC. Jank JM, et al. PLoS One. 2014 Apr 9;9(4):e93852. doi: 10.1371/journal.pone.0093852. eCollection 2014. PLoS One. 2014. PMID: 24718418 Free PMC article.

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.

Maier EM, Gersting SW, Kemter KF, Jank JM, Reindl M, Messing DD, Truger MS, Sommerhoff CP, Muntau AC. Maier EM, et al. Among authors: jank jm. Hum Mol Genet. 2009 May 1;18(9):1612-23. doi: 10.1093/hmg/ddp079. Epub 2009 Feb 18. Hum Mol Genet. 2009. PMID: 19224950 Free PMC article.

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