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Article

On the molecular basis of D-bifunctional protein deficiency type III.

PloS one - 1 Jan 2013

Mehtälä Maija L, Lensink Marc F, Pietikäinen Laura P, Hiltunen J Kalervo, Glumoff Tuomo

Abstract excerpt

Molecular basis of D-bifunctional protein (D-BP) deficiency was studied with wild type and five disease-causing variants of 3R-hydroxyacyl-CoA dehydrogenase fragment of the human MFE-2 (multifunctional enzyme type 2) protein. Complementation analysis in vivo in yeast and in vitro enzyme kinetic and stability determinants as well as in silico stability and structural fluctuation calculations were correlated with...

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Identifiers

PMID: 23308274
DOI: 10.1371/journal.pone.0053688
PMCID: PMC3538638

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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