Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders (Q34006948)

30 July 2017

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title

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders (English)

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30 July 2017

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Brage Storstein Andresen

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30 July 2017

Gregersen N

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30 July 2017

Bross P

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30 July 2017

Jørgensen MM

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30 July 2017

Corydon TJ

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30 July 2017

publication date

1 July 2000

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Journal of Inherited Metabolic Disease

30 July 2017

published in

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30 July 2017

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30 July 2017

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30 July 2017

page(s)

441-447

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Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria

30 July 2017

cites work

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12 December 2020

Chloride Conductance Expressed by ΔF508 and Other Mutant CFTRs In Xenopus Oocytes

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12 December 2020

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

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12 December 2020

A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

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12 December 2020

Familial hypertrophic cardiomyopathy: from mutations to functional defects

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12 December 2020

Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins

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12 December 2020

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

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12 December 2020

Monogenic traits are not simple: lessons from phenylketonuria

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12 December 2020

Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.

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12 December 2020

Defective protein folding as a basis of human disease

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12 December 2020

Protein misfolding and degradation in genetic diseases.

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12 December 2020

Retrograde protein translocation: ERADication of secretory proteins in health and disease

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12 December 2020

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 mutation.

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12 December 2020

Protein quality control: triage by chaperones and proteases

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12 December 2020

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function

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12 December 2020

Structural cues involved in endoplasmic reticulum degradation of G85E and G91R mutant cystic fibrosis transmembrane conductance regulator

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12 December 2020

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

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12 December 2020

Regulated protein degradation in mitochondria

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12 December 2020

Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency

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12 December 2020

Biosynthesis and degradation of CFTR.

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12 December 2020

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

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12 December 2020

How chaperones fold proteins.

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12 December 2020

Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD). Demonstration of impaired transfer of K304E-variant MCAD from its complex with hsp60 to the native tetramer

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12 December 2020

Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria

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12 December 2020

Alpha 1-antitrypsin deficiency. A conformational disease

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12 December 2020

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

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12 December 2020

Degradation of CFTR by the ubiquitin-proteasome pathway

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12 December 2020

Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells.

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12 December 2020

The cytoskeleton and disease: genetic disorders of intermediate filaments

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12 December 2020

Lectins as chaperones in glycoprotein folding

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12 December 2020

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

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12 December 2020

Conformational disease

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12 December 2020

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

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12 December 2020

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

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12 December 2020

Folding of Secretory and Membrane Proteins

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12 December 2020

Chemical chaperones correct the mutant phenotype of the ΔF508 cystic fibrosis transmembrane conductance regulator protein

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12 December 2020

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

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12 December 2020

In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005663728291

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1005663728291

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Dimensions Publication ID

30 July 2017

1006010078

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