(Q37318048)

English

Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.

scientific article published on 07 October 2016

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scholarly article

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26 March 2020

Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder (English)

1 reference

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26 March 2020

Paula Fernández-Guerra

2

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26 March 2020

Thomas Juhl Corydon

10

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26 March 2020

Johan Palmfeldt

11

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26 March 2020

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26 March 2020

author name string

Anne S Bie

1

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26 March 2020

Rune I D Birkler

3

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26 March 2020

Shahar Nisemblat

4

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26 March 2020

Dita Pelnena

5

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26 March 2020

Xinping Lu

6

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26 March 2020

Joshua L Deignan

7

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26 March 2020

Hane Lee

8

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26 March 2020

Naghmeh Dorrani

9

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26 March 2020

Liga Bivina

12

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26 March 2020

Abdussalam Azem

13

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26 March 2020

Kristin Herman

14

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26 March 2020

publication date

7 October 2016

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26 March 2020

Frontiers in molecular biosciences

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26 March 2020

3

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26 March 2020

65

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26 March 2020

Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex

1 reference

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The GroEL-GroES Chaperonin Machine: A Nano-Cage for Protein Folding

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Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice

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Manganese superoxide dismutase and aldehyde dehydrogenase deficiency increase mitochondrial oxidative stress and aggravate age-dependent vascular dysfunction

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

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9 September 2017

Inference of macromolecular assemblies from crystalline state

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9 September 2017

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9 September 2017

Protein unfolding in the cell

1 reference

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9 September 2017

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

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1 reference

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12 December 2020

based on heuristic

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1 reference

https://pubmed.ncbi.nlm.nih.gov/27774450

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/27774450

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/27774450

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3389/FMOLB.2016.00065

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27774450%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27774450%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27774450%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

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