Reference on EC 1.14.11.18 - phytanoyl-CoA dioxygenase
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REF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Mihalik, S.J.; Rainville, A.M.; Watkins, P.A.
Phytanic acid oxidation in rat liver peroxisomes. Production of alpha-hydroxyphytanoyl-CoA and formate is enhanced by dioxygenase cofactors
Eur. J. Biochem.
232
545-551
1995
Rattus norvegicus
Jansen, G.A.; Mihalik, S.J.; Watkins, P.A.; Moser, H.W.; Jakobs, C.; Denis, C.; Wanders, R.J.A.
Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans
Biochem. Biophys. Res. Commun.
229
205-210
1996
Homo sapiens
Mihalik, S.J.; Morrell, J.C.; Kim, D.; Sacksteder, K.A.; Watkins, P.A.; Gould, S.J.
Identification of PAHX, a Refsum disease gene
Nature Genet.
17
185-189
1997
Homo sapiens
Jansen, G.A.; Mihalik, S.J.; Watkins, P.A.; Jakobs, C.; Moser, H.W.; Wanders, R.J.A.
Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders
Clin. Chim. Acta
271
203-211
1998
Homo sapiens
Jansen, G.A.; Ofman, R.; Ferdinandusse, S.; Ijlst, L.; Muijsers, A.O.; Skjeldal, O.H.; Stokke, O.; Jakobs, C.; Besley, G.T.N.; Wraith, J.E.; Wanders, R.J.A.
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
Nature Genet.
17
190-193
1997
Homo sapiens, Rattus norvegicus
Chahal, A.; Khan, M.; Pai, S.G.; Barbosa, E.; Singh, I.
Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene
FEBS Lett.
429
119-122
1998
Homo sapiens
Jansen, G.A.; Ferdinandusse, S.; Hogenhout, E.M.; Verhoeven, N.M.; Jakobs, C.; Wanders, R.J.A.
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease
Adv. Exp. Med. Biol.
466
371-376
1999
Homo sapiens
Jansen, G.A.; Ofman, R.; Denis, S.; Ferdinandusse, S.; Hogenhout, E.M.; Jakobs, C.; Wanders, R.J.A.
Phytanoyl-CoA hydroxylase from rat liver: protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation
J. Lipid Res.
40
2244-2254
1999
Rattus norvegicus
Zomer, A.W.M.; Jansen, G.A.; Van der Burg, B.; Verhoeven, N.M.; Jakobs, C.; Van der Saag, P.T.; Wanders, R.J.A.; Poll-The, B.T.
Phytanoyl-CoA hydroxylase activity is induced by phytanic acid
Eur. J. Biochem.
267
4063-4067
2000
Homo sapiens, Platyrrhini, Mus musculus, Rattus norvegicus
Croes, K.; Foulon, V.; Casteels, M.; Van Veldhoven, P.P.; Mannaerts, G.P.
Phytanoyl-CoA hydroxylase: recognition of 3-methyl-branched acyl-CoAs and requirement for GTP or ATP and Mg2+ in addition to its known hydroxylation cofactors
J. Lipid Res.
41
629-636
2000
Homo sapiens, Rattus norvegicus
Kershaw, N.J.; Mukherji, M.; MacKinnon, C.H.; Claridge, T.D.; Odell, B.; Wierzbicki, A.S.; Lloyd, M.D.; Schofield, C.J.
Studies on phytanoyl-CoA 2-hydroxylase and synthesis of phytanoyl-coenzyme A
Bioorg. Med. Chem. Lett.
11
2545-2548
2001
Homo sapiens
Mukherji, M.; Kershaw, N.J.; Schofield, C.J.; Wierzbicki, A.S.; Lloyd, M.D.
Utilization of sterol carrier protein-2 by phytanoyl-CoA 2-hydroxylase in the peroxisomal alpha oxidation of phytanic acid
Chem. Biol.
9
597-605
2002
Homo sapiens
Mukherji, M.; Chien, W.; Kershaw, N.J.; Clifton, I.J.; Schofield, C.J.; Wierzbicki, A.S.; Lloyd, M.D.
Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease
Hum. Mol. Genet.
10
1971-1982
2001
Homo sapiens (O14832)
Chen, C.; Wang, Q.; Fang, X.; Xu, Q.; Chi, C.; Gu, J.
Roles of phytanoyl-CoA alpha-hydroxylase in mediating the expression of human coagulation factor VIII
J. Biol. Chem.
276
46340-46346
2001
Homo sapiens
Foulon, V.; Asselberghs, S.; Geens, W.; Mannaerts, G.P.; Casteels, M.; van Veldhoven, P.P.
Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?
J. Lipid Res.
44
2349-2355
2003
Homo sapiens
Searls, T.; Butler, D.; Chien, W.; Mukherji, M.; Lloyd, M.D.; Schofield, C.J.
Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands
J. Lipid Res.
46
1660-1667
2005
Homo sapiens (O14832)
McDonough, M.A.; Kavanagh, K.L.; Butler, D.; Searls, T.; Oppermann, U.; Schofield, C.J.
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease
J. Biol. Chem.
280
41101-41110
2005
Homo sapiens (O14832), Homo sapiens
Sullivan, M.B.; Huang, K.H.; Ignacio-Espinoza, J.C.; Berlin, A.M.; Kelly, L.; Weigele, P.R.; DeFrancesco, A.S.; Kern, S.E.; Thompson, L.R.; Young, S.; Yandava, C.; Fu, R.; Krastins, B.; Chase, M.; Sarracino, D.; Osburne, M.S.; Henn, M.R.; Chisholm, S.W.
Genomic analysis of oceanic cyanobacterial myoviruses compared with T4-like myoviruses from diverse hosts and environments
Environ. Microbiol.
12
3035-3056
2010
Caudoviricetes
Stepien, K.M.; Wierzbicki, A.S.; Poll-The, B.T.; Waterham, H.R.; Hendriksz, C.J.
The challenges of a successful pregnancy in a patient with adult refsums disease due to phytanoyl-CoA hydroxylase deficiency
JIMD Rep.
33
49-53
2017
Homo sapiens (O14832), Homo sapiens
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