Search

Your search keyword '"Merel S. Ebberink"' showing total 1 results
Start Over Author "Merel S. Ebberink" Publisher the royal society of chemistry
1 results on '"Merel S. Ebberink"'

1. Phytanoyl-CoA Hydroxylase: A 2-Oxoglutarate-Dependent Dioxygenase Crucial for Fatty Acid Alpha-Oxidation in Humans

Author

Sacha Ferdinandusse, Hans R. Waterham, Merel S. Ebberink, and Ronald J. A. Wanders

Subjects
chemistry.chemical_classification, Fatty acid alpha-oxidation, Fatty acid, Peroxisome, Biology, medicine.disease, PHYTANOYL-CoA HYDROXYLASE, Enzyme, Refsum disease, chemistry, Biochemistry, Inborn error of metabolism, Dioxygenase, medicine
Abstract

Phytanoyl-CoA hydroxylase belongs to the family of 2-oxoglutarate-dependent dioxygenases and plays a crucial role in the α-oxidation of fatty acids. The complete α-oxidation pathway involves five different enzymes localized in peroxisomes. Thus far, phytanoyl-CoA hydroxylase deficiency has remained the only genetically determined inborn error of metabolism affecting the α-oxidation pathway. In this chapter we describe the current state of knowledge on fatty acid α-oxidation with special emphasis on phytanoyl-CoA hydroxylase and its deficiency in Refsum disease.

Published
2015

Catalog

Books, media, physical & digital resources
See catalog results