ReviewJournal of inherited metabolic disease2000
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.
Review in Journal of inherited metabolic disease, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 61 citations in OpenAlex.
- SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.Molecular biology reports · 2021Trial
- Adaptive loss of function accelerated the evolution of ancient and modern human cognition.bioRxiv : the preprint server for biology · 2026Article
- A New GlyT2 Variant Associated with Hyperekplexia.International journal of molecular sciences · 2025Article
- Loss of expression and function of Gβγ by GNB1 encephalopathy-associated L95P mutation of the GβFrontiers in pharmacology · 2025Article
- Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.International journal of molecular sciences · 2021Article
- Quantitative analysis of the impact of a human pathogenic mutation on the CCT5 chaperonin subunit using a proxy archaeal ortholog.Biochemistry and biophysics reports · 2017Article
- Article
- Confirmation of GRHL2 as the gene for the DFNA28 locus.American journal of medical genetics. Part A · 2013Article
- Symmetry-free cryo-EM structures of the chaperonin TRiC along its ATPase-driven conformational cycle.The EMBO journal · 2012Article
- Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva.The Journal of biological chemistry · 2010Article
- Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.The Journal of biological chemistry · 2010Article
- Mechanism of lid closure in the eukaryotic chaperonin TRiC/CCT.Nature structural & molecular biology · 2008Article
- Human SNPs resulting in premature stop codons and protein truncation.Human genomics · 2006Article
- Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.Human genetics · 2005Article
- Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase.The Biochemical journal · 2004Article
- Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.Human genetics · 2004Article
- The Hsp70 and TRiC/CCT chaperone systems cooperate in vivo to assemble the von Hippel-Lindau tumor suppressor complex.Molecular and cellular biology · 2003Article
- Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.Journal of inherited metabolic disease · 2003Article
- Human gene mutation in pathology and evolution.Journal of inherited metabolic disease · 2002Review
- Implication of the extracellular disulfide bond on myelin protein zero expression.Neurochemical research · 2001Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Many disease-causing point mutations do not seriously compromise synthesis of the affected polypeptide but rather exert their effects by impairing subsequent protein folding or stability of the folded protein. This often results in rapid degradation of the affected protein. The concepts of such 'conformational disease' are illustrated by reference to cystic fibrosis, phenylketonuria and short-chain acyl-CoA dehydrogenase deficiency. Other cellular components such as chaperones and proteases, as well as environmental factors, may combine to modulate the phenotype of such disorders and this may open up new therapeutic approaches.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.