Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency.

Progress in nucleic acid research and molecular biology - 1 Jan 1998

Bross P, Andresen B S, Gregersen N

Abstract excerpt

Rapid progress in DNA technology has entailed the possibility of readily detecting mutations in disease genes. In contrast to this, techniques to characterize the effects of mutations are still very time consuming. It has turned out that many of the mutations detected in disease genes are missense mutations. Characterization of the effect of these mutations is particularly important in order to establish that...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fatty Acids
Share to Mitochondria
Share to Models, Biological

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Models, Molecular

Share to Molecular Chaperones

Share to Mutation

Share to Protein Conformation

Share to Protein Folding

Source

Identifiers

PMID: 9308370
DOI: 10.1016/s0079-6603(08)60040-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency.PMID 9308370Read ↗

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.Semantic proximity Read ↗

Protein misfolding and degradation in genetic diseases.Semantic proximity Read ↗

Role of quality control pathways in human diseases involving protein misfolding.Semantic proximity Read ↗

Disease mechanisms and protein structures in fatty acid oxidation defects.Semantic proximity Read ↗

Degradation of mutant proteins, underlying "loss of function" phenotypes, plays a major role in genetic disease.Semantic proximity Read ↗

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme.Semantic proximity Read ↗

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.Semantic proximity Read ↗

Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein.Semantic proximity Read ↗

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.Semantic proximity Read ↗

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?Semantic proximity Read ↗

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screeningSemantic proximity Read ↗

Disorders of protein biogenesis and stability.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.