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

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1 August 2017

Gregersen N

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1 August 2017

Bross P

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1 August 2017

Pedersen CB

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1 August 2017

Corydon TJ

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1 August 2017

Bolund L

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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

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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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The heat-shock proteins

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Getting newly synthesized proteins into shape.

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Protein oligomerization in the endoplasmic reticulum

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Protein folding in the cell

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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

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

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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

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

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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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