ReviewJournal of inherited metabolic disease
Protein misfolding disorders: pathogenesis and intervention.
Review in Journal of inherited metabolic disease. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 80 citations in OpenAlex.
- Autophagy Modulation in Aggresome Formation: Emerging Implications and Treatments of Alzheimer's Disease.Biomedicines · 2022Review
- A Dominant C150Y Mutation in FHL1 Induces Structural Alterations in LIM2 Domain Causing Protein Aggregation In Human and Drosophila Indirect Flight Muscles.Journal of molecular neuroscience : MN · 2021Article
- Consistency of the Tools That Predict the Impact of Single Nucleotide Variants (SNVs) on Gene Functionality: TheBiomolecules · 2020Article
- A Small Chaperone Improves Folding and Routing of Rhodopsin Mutants Linked to Inherited Blindness.iScience · 2018Article
- Serum and Urine Thioflavin-T-Enhanced Fluorescence in Severe Preeclampsia.Hypertension (Dallas, Tex. : 1979) · 2018Article
- The Codon Usage of Lowly Expressed Genes Is Subject to Natural Selection.Genome biology and evolution · 2018Article
- Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.Molecular therapy : the journal of the American Society of Gene Therapy · 2015Review
- Isolation and characterization of antibody fragments selective for toxic oligomeric tau.Neurobiology of aging · 2015Article
- Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.The Journal of biological chemistry · 2014Article
- Autophagy in the eye: implications for ocular cell health.Experimental eye research · 2014Review
- Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.Journal of inherited metabolic disease · 2014Review
- Phenylketonuria: translating research into novel therapies.Translational pediatrics · 2014Review
- Human surfactant protein A2 gene mutations impair dimmer/trimer assembly leading to deficiency in protein sialylation and secretion.PloS one · 2012Article
- The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.Molecular genetics and metabolism · 2011Article
- HSP70 inhibition by the small-molecule 2-phenylethynesulfonamide impairs protein clearance pathways in tumor cells.Molecular cancer research : MCR · 2011Article
- Determinants of translation efficiency and accuracy.Molecular systems biology · 2011Review
- Inhibitors of protein disulfide isomerase suppress apoptosis induced by misfolded proteins.Nature chemical biology · 2010Article
- Disease mechanisms and protein structures in fatty acid oxidation defects.Journal of inherited metabolic disease · 2010Article
- A synonymous single nucleotide polymorphism in DeltaF508 CFTR alters the secondary structure of the mRNA and the expression of the mutant protein.The Journal of biological chemistry · 2010Article
- Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newly synthesized proteins in the living cell must go through a folding process to attain their functional structure. To achieve this in an efficient fashion, all organisms, including humans, have evolved a large set of molecular chaperones that assist the folding as well as the maintenance of the functional structure of cellular proteins. Aberrant proteins, the result of production errors, inherited or acquired amino acid substitutions or damage, especially oxidative modifications, can in many cases not fold correctly and will be trapped in misfolded conformations. To rid the cell of misfolded proteins, the living cell contains a large number of intracellular proteases, e.g. the proteasome, which together with the chaperones comprise the cellular protein quality control systems. Many inherited disorders due to amino acid substitutions exhibit loss-of-function pathogenesis because the aberrant protein is eliminated by one of the protein quality control systems. Examples are cystic fibrosis and phenylketonuria. However, not all aberrant proteins can be eliminated and the misfolded protein may accumulate and form toxic oligomeric and/or aggregated inclusions. In this case the loss of function may be accompanied by a gain-of-function pathogenesis, which in many cases determines the pathological and clinical features. Examples are Parkinson and Huntington diseases. Although a number of strategies have been tried to decrease the amounts of accumulated and aggregated proteins, a likely future strategy seems to be the use of chemical or pharmacological chaperones with specific effects on the misfolded protein in question. Positive examples are enzyme enhancement in a number of lysosomal disorders.
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Registered trials
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.