Protein misfolding and degradation in genetic diseases. (Q33728820)

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12 December 2019

review article

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title

Protein misfolding and degradation in genetic diseases (English)

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12 December 2019

1

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12 December 2019

Thomas Juhl Corydon

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12 December 2019

Brage Storstein Andresen

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12 December 2019

author name string

Jørgensen MM

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12 December 2019

Bolund L

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12 December 2019

Gregersen N

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12 December 2019

publication date

1 January 1999

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12 December 2019

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12 December 2019

volume

14

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12 December 2019

issue

3

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12 December 2019

page(s)

186-198

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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?

12 December 2019

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The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease

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Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles

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Protein processing: a role in the pathophysiology of genetic disease.

21 January 2018

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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.

21 January 2018

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

21 January 2018

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Alpha 1-antitrypsin deficiency. A conformational disease

21 January 2018

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21 January 2018

Conformational disease

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

21 January 2018

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The ubiquitin-proteasome pathway: the complexity and myriad functions of proteins death

21 January 2018

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The human gene mutation database

21 January 2018

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A human homologue of Escherichia coli ClpP caseinolytic protease: recombinant expression, intracellular processing and subcellular localization

21 January 2018

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Lysosomes, a meeting point of proteins, chaperones, and proteases

21 January 2018

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

21 January 2018

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From Levinthal to pathways to funnels

21 January 2018

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Autophagy and related mechanisms of lysosome-mediated protein degradation

21 January 2018

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Chaperonin-mediated folding in the eukaryotic cytosol proceeds through rounds of release of native and nonnative forms

21 January 2018

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Hsp104, Hsp70, and Hsp40: a novel chaperone system that rescues previously aggregated proteins

21 January 2018

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Protein quality control: triage by chaperones and proteases

21 January 2018

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Structure of 20S proteasome from yeast at 2.4 A resolution

21 January 2018

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21 January 2018

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

21 January 2018

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Ubiquitin and the Enigma of Intracellular Protein Degradation

21 January 2018

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Multiple proteolytic systems, including the proteasome, contribute to CFTR processing

21 January 2018

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Aggresomes: a cellular response to misfolded proteins

21 January 2018

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Regulated protein degradation in mitochondria

21 January 2018

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The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTR.

21 January 2018

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

21 January 2018

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New insights into the structural basis of alpha 1-antitrypsin deficiency

21 January 2018

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21 January 2018

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The AAA team: related ATPases with diverse functions

21 January 2018

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Alteration of the cystic fibrosis transmembrane conductance regulator folding pathway

21 January 2018

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Hsp90 as a capacitor for morphological evolution

21 January 2018

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delta F508 in cystic fibrosis: willing but not able

21 January 2018

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Defective protein folding as a basis of human disease

21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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Degradation of CFTR by the ubiquitin-proteasome pathway

21 January 2018

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21 January 2018

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A nascent secretory protein may traverse the ribosome/endoplasmic reticulum translocase complex as an extended chain

21 January 2018

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21 January 2018

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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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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Molecular chaperone machines: chaperone activities of the cyclophilin Cyp-40 and the steroid aporeceptor-associated protein p23

21 January 2018

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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

21 January 2018

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Enzymatic and structural similarities between the Escherichia coli ATP-dependent proteases, ClpXP and ClpAP

21 January 2018

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Folding of Secretory and Membrane Proteins

21 January 2018

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Alpha-1-antitrypsin deficiency

21 January 2018

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The N-end rule pathway catalyzes a major fraction of the protein degradation in skeletal muscle

21 January 2018

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

21 January 2018

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10.1002/(SICI)1098-1004(1999)14:3<186::AID-HUMU2>3.0.CO;2-J

21 January 2018

Identifiers

DOI

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12 December 2019

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