Disease on EC 1.14.11.18 - phytanoyl-CoA dioxygenase

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DISEASE
TITLE OF PUBLICATION
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Adrenoleukodystrophy
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase.
Chondrodysplasia Punctata, Rhizomelic
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.
Deafness
Phytanic acid oxidase deficiency in childhood.
Liver Diseases
Phytanic acid oxidase deficiency in childhood.
Lupus Nephritis
Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated protein.
Peroxisomal Disorders
[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature]
phytanoyl-coa dioxygenase deficiency
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
Patterns of Refsum's disease. Phytanic acid oxidase deficiency.
Phytanic acid oxidase deficiency in childhood.
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency.
Refsum Disease
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase.
Characterization of phytanic acid omega-hydroxylation in human liver microsomes.
CYP4 isoform specificity in the omega-hydroxylation of phytanic acid, a potential route to elimination of the causative agent of Refsum's disease.
Dual-specificity tyrosine-phosphorylated and regulated kinase 1A (DYRK1A) interacts with the phytanoyl-CoA alpha-hydroxylase associated protein 1 (PAHX-AP1), a brain specific protein.
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase.
Identification of genetic heterogeneity in Refsum's disease.
Identification of PEX7 as the second gene involved in Refsum disease.
Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated protein.
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease.
Patterns of Refsum's disease. Phytanic acid oxidase deficiency.
Phytanic acid metabolism in health and disease.
Phytanic acid oxidase deficiency in childhood.
Phytanoyl-CoA hydroxylase activity is induced by phytanic acid.
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.
Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease.
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene.
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.
Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.
The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency.
Retinal Diseases
Phytanic acid oxidase deficiency in childhood.
Zellweger Syndrome
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.