(Q63544601)

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21 December 2019

title

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential (English)

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21 December 2019

1

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21 December 2019

Klary E Niezen-Koning

10

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21 December 2019

author name string

Zhijie Li

2

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21 December 2019

Jakob Hansen

3

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21 December 2019

Jens Jacob Hansen

4

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21 December 2019

Marit Nyholm Nielsen

5

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21 December 2019

Thomas Juhl Corydon

6

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21 December 2019

Costa Georgopoulos

7

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21 December 2019

Debbie Ang

8

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21 December 2019

Jytte Banner Lundemose

9

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21 December 2019

Hans Eiberg

11

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21 December 2019

Steen Kølvraa

13

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21 December 2019

Niels Gregersen

15

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21 December 2019

Huanming Yang

12

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21 December 2019

Lars Bolund

14

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21 December 2019

publication date

27 October 2006

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Journal of Human Genetics

21 December 2019

published in

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21 December 2019

volume

52

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21 December 2019

issue

1

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21 December 2019

page(s)

56-65

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https://scigraph.springernature.com/pub.10.1007/s10038-006-0080-7

21 December 2019

exact match

0 references

cites work

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12 December 2020

Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency

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12 December 2020

Unfolding the role of chaperones and chaperonins in human disease

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Hsp90 as a capacitor for morphological evolution

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12 December 2020

Molecular characterization of the 5' control region and of two lethal alleles affecting the hsp60 gene in Drosophila melanogaster.

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12 December 2020

Gene polymorphisms and the use of the bonferroni correction factor: when and when not to apply?

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12 December 2020

Modifier genes in mice and humans

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12 December 2020

Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydrogenase wild-type and disease-associated proteins

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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.

1 reference

12 December 2020

Characterization of single-nucleotide polymorphisms in coding regions of human genes

1 reference

12 December 2020

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60

1 reference

12 December 2020

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

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12 December 2020

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

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

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12 December 2020

Sudden infant death syndrome: overview and update

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12 December 2020

Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter

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

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12 December 2020

Genetic complexity of the human hsp 60 gene

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12 December 2020

Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years

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12 December 2020

Human heat shock protein gene polymorphisms and sudden infant death syndrome

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12 December 2020

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

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12 December 2020

Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19.

1 reference

12 December 2020

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

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12 December 2020

Morphology of the mitochondria in heat shock protein 60 deficient fibroblasts from mitochondrial myopathy patients. Effects of stress conditions

1 reference

12 December 2020

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

1 reference

12 December 2020

The strongly conserved carboxyl-terminus glycine-methionine motif of the Escherichia coli GroEL chaperonin is dispensable.

1 reference

12 December 2020

Deficient heat shock protein expression: a potential mechanism for the sudden infant death syndrome

1 reference

12 December 2020

Decreased synthesis and inefficient mitochondrial import of hsp60 in a patient with a mitochondrial encephalomyopathy

1 reference

12 December 2020

Hsp90 as a capacitor of phenotypic variation

1 reference

12 December 2020

Association between low self-rated health and heterozygosity for -110A > C polymorphism in the promoter region of HSP70-1 in aged Danish twins.

1 reference

12 December 2020

Molecular variation of human HSP90alpha and HSP90beta genes in Caucasians

1 reference

12 December 2020

A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60.

1 reference

12 December 2020

A yeast-based assay reveals a functional defect of the Q488H polymorphism in human Hsp90α

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12 December 2020

Endosymbiotic bacteria: groEL buffers against deleterious mutations

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12 December 2020

Identification of genes that modify ataxin-1-induced neurodegeneration.

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12 December 2020

Genome-wide RNA interference screen identifies previously undescribed regulators of polyglutamine aggregation

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12 December 2020

Identification of in vivo substrates of the yeast mitochondrial chaperonins reveals overlapping but non-identical requirement for hsp60 and hsp10.

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12 December 2020

A mitochondrial specific stress response in mammalian cells

1 reference

12 December 2020

Structural features of the GroEL-GroES nano-cage required for rapid folding of encapsulated protein.

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12 December 2020

Conservation among HSP60 sequences in relation to structure, function, and evolution

1 reference

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

Human neurodegenerative disease modeling using Drosophila.

1 reference

12 December 2020