(Q34280999)

1 August 2017

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title

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders (English)

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1 August 2017

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Brage Storstein Andresen

3

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1 August 2017

Gregersen N

1

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1 August 2017

Bross P

2

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1 August 2017

Pedersen CB

4

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1 August 2017

Corydon TJ

5

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1 August 2017

Bolund L

6

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1 August 2017

1 April 2001

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Journal of Inherited Metabolic Disease

1 August 2017

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1 August 2017

24

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1 August 2017

189-212

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1 August 2017

2

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https://scigraph.springernature.com/pub.10.1023/a:1010319001722

1 August 2017

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cites work

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

1 reference

12 December 2020

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations

1 reference

12 December 2020

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

1 reference

12 December 2020

Quality control in the secretory pathway: retention of a misfolded viral membrane glycoprotein involves cycling between the ER, intermediate compartment, and Golgi apparatus

1 reference

12 December 2020

Current clinical diagnosis in Creutzfeldt-Jakob disease: Identification of uncommon variants

2 references

12 December 2020

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1010319001722

7 January 2021

inferred from DOI database lookup

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

1 reference

12 December 2020

Grp78 Is Involved in Retention of Mutant Low Density Lipoprotein Receptor Protein in the Endoplasmic Reticulum

1 reference

12 December 2020

Familial hypertrophic cardiomyopathy: from mutations to functional defects

1 reference

12 December 2020

Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein

1 reference

12 December 2020

Quality control in the secretory pathway: the role of calreticulin, calnexin and BiP in the retention of glycoproteins with C-terminal truncations

1 reference

12 December 2020

Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency

1 reference

12 December 2020

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

1 reference

12 December 2020

A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency

1 reference

12 December 2020

Nonsense-mediated mRNA decay in health and disease

1 reference

12 December 2020

The Hsp70 and Hsp60 chaperone machines

1 reference

12 December 2020

The heat-shock proteins

1 reference

12 December 2020

Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene

1 reference

12 December 2020

Membrane protein degradation by AAA proteases in mitochondria: extraction of substrates from either membrane surface

1 reference

12 December 2020

Folding in vivo of bacterial cytoplasmic proteins: role of GroEL.

1 reference

12 December 2020

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

1 reference

12 December 2020

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

1 reference

12 December 2020

Defective protein folding as a basis of human disease

1 reference

12 December 2020

The J-domain family and the recruitment of chaperone power

1 reference

12 December 2020

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

1 reference

12 December 2020

Protein misfolding and degradation in genetic diseases.

1 reference

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.

1 reference

12 December 2020

Protein quality control: triage by chaperones and proteases

1 reference

12 December 2020

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

1 reference

12 December 2020

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

1 reference

12 December 2020

Misfolded proteins in the endoplasmic reticulum.

1 reference

12 December 2020

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Getting newly synthesized proteins into shape.

1 reference

12 December 2020

Molecular chaperones in cellular protein folding

1 reference

12 December 2020

Amyloid beta-protein and the genetics of Alzheimer's disease

1 reference

12 December 2020

Isoalloxazine ring of FAD is required for the formation of the core in the Hsp60-assisted folding of medium chain acyl-CoA dehydrogenase subunit into the assembly competent conformation in mitochondria

1 reference

12 December 2020

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

1 reference

12 December 2020

AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes

1 reference

12 December 2020

Prefoldin, a chaperone that delivers unfolded proteins to cytosolic chaperonin

1 reference

12 December 2020

Protein folding in vivo: the importance of molecular chaperones

1 reference

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

1 reference

12 December 2020

Protein oligomerization in the endoplasmic reticulum

1 reference

12 December 2020

Protein folding in the cell

1 reference

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

1 reference

12 December 2020

Chaperone selection during glycoprotein translocation into the endoplasmic reticulum.

1 reference

12 December 2020

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

1 reference

12 December 2020

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

1 reference

12 December 2020

Molecular chaperones and mitochondrial protein folding

1 reference

12 December 2020

Biochemical characterization of purified, human recombinant Lys304-->Glu medium-chain acyl-CoA dehydrogenase containing the common disease-causing mutation and comparison with the normal enzyme

1 reference

12 December 2020

Human and mouse mitochondrial orthologs of bacterial ClpX

1 reference

12 December 2020

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

1 reference

12 December 2020

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

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

1 reference

12 December 2020

A human mitochondrial ATP-dependent protease that is highly homologous to bacterial Lon protease

1 reference

12 December 2020

In vivo newly translated polypeptides are sequestered in a protected folding environment

1 reference

12 December 2020

Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

The cytoskeleton and disease: genetic disorders of intermediate filaments

1 reference

12 December 2020

DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis

1 reference

12 December 2020

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype

1 reference

12 December 2020

Chaperones get in touch: the Hip-Hop connection

1 reference

12 December 2020

Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability

1 reference

12 December 2020

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

1 reference

12 December 2020

Conformational disease

1 reference

12 December 2020

Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: implications for Huntington's disease pathology

1 reference

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?

1 reference

12 December 2020

Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator

1 reference

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%3A1010319001722

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1010319001722

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Dimensions Publication ID

1 August 2017

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