Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity

Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity

d-bifunctional protein (d-BP) deficiency is thought to lead to severe lipid metabolism disorders. To investigate the effect of naturally occurring missense mutations in the hydratase domain in d-BP, we constructed several d-BP hydratase variants and measured their activities. Missense mutations at s...

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Bibliographic Details
Main Authors: Shirou Tsuchida, Akihiro Osaka, Yuya Abe, Naoya Hamaue, Takashi Aoki
Format: Article
Language:English
Published: Elsevier 2015-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
d-bifunctional protein
2-enoyl-CoA hydratase
17-β-estradiol dehydrogenase
Missense mutation
Multifunctional enzyme type 2
Peroxisomal β-oxidation
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000822

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http://www.sciencedirect.com/science/article/pii/S2214426914000822

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