(Q36744667)

English

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

scientific article published on 19 June 2008

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

neurodegeneration

1 reference

based on heuristic

inferred from title

object named as

Peter Bross

3

0 references

13

object named as

Karl Skorecki

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

author name string

Daniella Magen

1

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Costa Georgopoulos

2

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Debbie Ang

4

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Yardena Segev

5

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Dorit Goldsher

6

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Alexandra Nemirovski

7

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Eli Shahar

8

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Sarit Ravid

9

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Anthony Luder

10

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Bayan Heno

11

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Ruth Gershoni-Baruch

12

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Hanna Mandel

14

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

language of work or name

0 references

publication date

19 June 2008

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

83

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

30-42

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Cytosolic accumulation of HSP60 during apoptosis with or without apparent mitochondrial release: evidence that its pro-apoptotic or pro-survival functions involve differential interactions with caspase-3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Heat shock genes - integrating cell survival and death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

A cell biological perspective on mitochondrial dysfunction in Parkinson disease and other neurodegenerative diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Two families of chaperonin: physiology and mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Mitochondria and neurodegeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

The evidence basis for coenzyme Q therapy in oxidative phosphorylation disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Heat shock protein 60 or 70 activates nitric-oxide synthase (NOS) I- and inhibits NOS II-associated signaling and depresses the mitochondrial apoptotic cascade during brain stem death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Differential effects of mitochondrial heat shock protein 60 and related molecular chaperones to prevent intracellular beta-amyloid-induced inhibition of complex IV and limit apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Mitochondrial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

The role of mitochondria in inherited neurodegenerative diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Emerging pathways for hereditary axonopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

The hereditary spastic paraplegias: nine genes and counting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Molecular chaperones in the cytosol: from nascent chain to folded protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

An update on the leukodsytrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Folding of newly translated proteins in vivo: the role of molecular chaperones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

The importance of a mobile loop in regulating chaperonin/ co-chaperonin interaction: humans versus Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

The molecular pathogenesis of Pelizaeus-Merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

A single-ring mitochondrial chaperonin (Hsp60-Hsp10) can substitute for GroEL-GroES in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

The Hsp70 and Hsp60 chaperone machines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

The crystal structure of the asymmetric GroEL-GroES-(ADP)7 chaperonin complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Mitochondrial heat-shock protein hsp60 is essential for assembly of proteins imported into yeast mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

The groES and groEL heat shock gene products of Escherichia coli are essential for bacterial growth at all temperatures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Protein folding in the cell

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Molecular chaperones and mitochondrial protein folding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

29 September 2017

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

28 June 2018

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

5 September 2018

Heat shock protein 60 in rostral ventrolateral medulla reduces cardiovascular fatality during endotoxaemia in the rat.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

5 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

5 September 2018

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

5 September 2018

Clinical manifestations of mitochondrial DNA depletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

5 September 2018

Protein folding in mitochondria requires complex formation with hsp60 and ATP hydrolysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443844

4 December 2018

A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18571143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18571143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

1 reference

https://pubmed.ncbi.nlm.nih.gov/18571143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reference charts for respiratory chain activities in human tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/18571143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunoelectron microscopic localization of the 60-kDa heat shock chaperonin protein (Hsp60) in mammalian cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/18571143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Directionality of polypeptide transfer in the mitochondrial pathway of chaperone-mediated protein folding

1 reference

https://pubmed.ncbi.nlm.nih.gov/18571143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18571143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2008.05.016

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q36744667&oldid=2112437259"