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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Veröffentlicht in:Molecular genetics and metabolism reports 2015-03, Vol.2 (C), p.41-45
Hauptverfasser: Tsuchida, Shirou, Osaka, Akihiro, Abe, Yuya, Hamaue, Naoya, Aoki, Takashi
Format: Artikel
Sprache:eng
Schlagworte:
17-β-estradiol dehydrogenase
2-enoyl-CoA hydratase
d-bifunctional protein
Missense mutation
Multifunctional enzyme type 2
Peroxisomal β-oxidation
Research Paper
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Zusammenfassung: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 sites whose conservation rates among 30 eukaryotes were
ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2014.12.003