Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.

Refsum disease (RD), a neurological syndrome characterized by adult onset retinitis pigmentosa, anosmia, sensory neuropathy, and phytanic acidaemia, is caused by elevated levels of phytanic acid. Many cases of RD are associated with mutations in phytanoyl-CoA 2-hydroxylase (PAHX), an Fe(II) and 2-ox...

詳細記述

書誌詳細
主要な著者: McDonough, M, Kavanagh, K, Butler, D, Searls, T, Oppermann, U, Schofield, C
フォーマット: Journal article
言語:English
出版事項: 2005