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

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...

Bibliografske podrobnosti
Main Authors:	McDonough, M, Kavanagh, K, Butler, D, Searls, T, Oppermann, U, Schofield, C
Format:	Journal article
Jezik:	English
Izdano:	2005

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