Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency
Sign Up to like & getrecommendations! Published in 2021 at "Brain and Development"
DOI: 10.1016/j.braindev.2020.10.011
Abstract: Peroxisomal acyl-CoA oxidase (ACOX1) deficiency is a rare autosomal recessive single enzyme deficiency characterized by hypotonia, seizures, failure to thrive, developmental delay, and neurological regression starting from approximately 3 years of age. Here, we report two… read more here.
Keywords: peroxisomal acyl; acyl coa; acox1 deficiency; two siblings ... See more keywords
Crystal structures of apo- and FAD-bound human peroxisomal acyl-CoA oxidase provide mechanistic basis explaining clinical observations.
Sign Up to like & getrecommendations! Published in 2022 at "International journal of biological macromolecules"
DOI: 10.1016/j.ijbiomac.2022.02.008
Abstract: Peroxisomal acyl-CoA oxidase 1a (ACOX1a) catalyzes the first and rate-limiting step of fatty acid oxidation, the conversion of acyl-CoAs to 2-trans-enoyl-CoAs. The dysfunction of human ACOX1a (hACOX1a) leads to deterioration of the nervous system manifesting… read more here.
Keywords: peroxisomal acyl; crystal structures; coa oxidase; acyl ... See more keywords