(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

publication date

1 April 2001

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Journal of Inherited Metabolic Disease

1 August 2017

published in

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1 August 2017

volume

24

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1 August 2017

issue

2

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1 August 2017

page(s)

189-212

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

1 August 2017

cites work

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

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

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Crossref

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

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

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

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Quality Control in the Secretory Pathway: The Role of Calreticulin, Calnexin and BiP in the Retention of Glycoproteins with C-Terminal Truncations

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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

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

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The Hsp70 and Hsp60 Chaperone Machines

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The heat-shock proteins

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Defective protein folding as a basis of human disease

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

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Misfolded proteins in the endoplasmic reticulum.

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

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Getting newly synthesized proteins into shape.

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Molecular chaperones in cellular protein folding

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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

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

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Protein folding in vivo: the importance of molecular chaperones

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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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Protein oligomerization in the endoplasmic reticulum

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12 December 2020

Protein folding in the cell

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

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

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Molecular chaperones and mitochondrial protein folding

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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

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12 December 2020

Human and mouse mitochondrial orthologs of bacterial ClpX

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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

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

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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

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

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12 December 2020

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

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

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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

DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis

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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

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12 December 2020

Chaperones get in touch: the Hip-Hop connection

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12 December 2020

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

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

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12 December 2020

Conformational disease

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12 December 2020

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

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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

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

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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%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

1032734970

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