phytanoyl-coenzyme A (phytanoyl CoA)

12/09/2005 - "Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease."
09/01/2001 - "Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease."
12/01/2003 - "Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?"
01/01/2017 - "The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency."
09/01/2011 - "Finally, we present new data on the omega-oxidation of phytanic acid making use of a recently generated mouse model for Refsum disease in which the gene encoding phytanoyl-CoA 2-hydroxylase has been disrupted."

03/23/1998 - "Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders."
01/01/2023 - "Refsum disease is an inherited peroxisomal disorder caused by severe deficiency of phytanoyl-CoA hydroxylase activity. "
10/24/1997 - "In cells from patients with a defective alpha-oxidation (Refsum disease, rhizomelic chondrodysplasia punctata and generalized peroxisomal disorders) 2-hydroxyphytanic acid and pristanic acid were low or not detectable, showing that in these disorders the hydroxylation of phytanoyl-CoA to 2-hydroxyphytanoyl-CoA is deficient. "

07/01/1997 - "Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata."
10/24/1997 - "In cells from patients with a defective alpha-oxidation (Refsum disease, rhizomelic chondrodysplasia punctata and generalized peroxisomal disorders) 2-hydroxyphytanic acid and pristanic acid were low or not detectable, showing that in these disorders the hydroxylation of phytanoyl-CoA to 2-hydroxyphytanoyl-CoA is deficient. "

08/04/2023 - "The specific genes associated with this subgroup, including CDKN2B, solute carrier family 22 member 5, and phytanoyl-CoA 2-hydroxylase, can be targeted for managing intestinal dysbacteriosis. "

12/04/1996 - "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."