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

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...

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Bibliographic Details
Main Authors: Maija L Mehtälä, Marc F Lensink, Laura P Pietikäinen, J Kalervo Hiltunen, Tuomo Glumoff
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3538638?pdf=render