Effects of Two Mutations Detected in Medium Chain Acyl-CoA Dehydrogenase (MCAD)-deficient Patients on Folding, Oligomer Assembly, and Stability of MCAD Enzyme
Open Access
- 1 April 1995
- journal article
- Published by Elsevier
- Vol. 270 (17) , 10284-10290
- https://doi.org/10.1074/jbc.270.17.10284
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.Archives of Disease in Childhood, 1994
- Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected childrenThe Journal of Pediatrics, 1994
- Molecular chaperones in protein folding: the art of avoiding sticky situationsTrends in Biochemical Sciences, 1994
- Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutationBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1993
- Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern EuropeHuman Heredity, 1993
- Fatty acid oxidation disorders: A new class of metabolic diseasesThe Journal of Pediatrics, 1992
- Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) geneHuman Mutation, 1992
- Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coliHuman Genetics, 1991
- Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.Journal of Clinical Investigation, 1990
- Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiencyBiochemical and Biophysical Research Communications, 1990