Molecular basis of Refsum disease: sequence variat...[Hum Mutat. 2004]

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1: Hum Mutat. 2004 Mar;23(3):209-18. Links

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

Jansen GA, Waterham HR, Wanders RJ.

Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

Refsum disease has long been known to be an inherited disorder of lipid metabolism characterized by the accumulation of phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) caused by an alpha-oxidation deficiency of this branched chain fatty acid in peroxisomes. The mechanism of phytanic acid alpha-oxidation and the enzymes involved had long remained mysterious, but they have been resolved in recent years. This has led to the resolution of the molecular basis of Refsum disease. Interestingly, Refsum disease is genetically heterogeneous; two genes, PHYH (also named PAHX) and PEX7, have been identified to cause Refsum disease, as reviewed in this work. Copyright 2004 Wiley-Liss, Inc.

PMID: 14974078 [PubMed - indexed for MEDLINE]

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
Nat Genet. 1997 Oct; 17(2):190-3.

[Nat Genet. 1997]
Identification of PAHX, a Refsum disease gene.
Nat Genet. 1997 Oct; 17(2):185-9.

[Nat Genet. 1997]
Identification of PEX7 as the second gene involved in Refsum disease.
Am J Hum Genet. 2003 Feb; 72(2):471-7. Epub 2003 Jan 9.

[Am J Hum Genet. 2003]
ReviewPhytanic acid alpha-oxidation, new insights into an old problem: a review.
Biochim Biophys Acta. 2003 Mar 17; 1631(2):119-35.

[Biochim Biophys Acta. 2003]
ReviewRefsum disease, peroxisomes and phytanic acid oxidation: a review.
J Neuropathol Exp Neurol. 2001 Nov; 60(11):1021-31.

[J Neuropathol Exp Neurol. 2001]
» See reviews... | » See all...

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[Proc Natl Acad Sci U S A. 2006]

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