(Q47979884)

7 February 2018

http://europepmc.org/abstract/MED/28173120

title

Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice (English)

1 reference

7 February 2018

http://europepmc.org/abstract/MED/28173120

author

Marek Vrbacký

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

Kallayanee Chawengsaksophak

11 June 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Tomáš Mráček

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Hana Nůsková

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

David Sedmera

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Jana Kovalčíková

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Inken M Beck

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

František Papoušek

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

František Kolář

9

1 reference

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11 June 2020

Margarita Sobol

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Pavel Hozák

11

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Radislav Sedlacek

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Josef Houštěk

13

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11 June 2020

publication date

1 November 2016

1 reference

7 February 2018

http://europepmc.org/abstract/MED/28173120

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

25

1 reference

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11 June 2020

issue

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

4674-4685

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

Molecular architecture of the rotary motor in ATP synthase

11 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Sequence and organization of the human mitochondrial genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Function, structure, and biogenesis of mitochondrial ATP synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

The metalloprotease encoded by ATP23 has a dual function in processing and assembly of subunit 6 of mitochondrial ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Prohibitins interact genetically with Atp23, a novel processing peptidase and chaperone for the F1Fo-ATP synthase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Mitochondrial diseases and genetic defects of ATP synthase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Pathogenesis of primary defects in mitochondrial ATP synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Mitochondrial respiratory-chain diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

TMEM70 deficiency: long-term outcome of 48 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Expression and processing of the TMEM70 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Mitochondrial membrane assembly of TMEM70 protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Mitochondrial diseases and ATPase defects of nuclear origin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Two components in pathogenic mechanism of mitochondrial ATPase deficiency: energy deprivation and ROS production.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Dimer ribbons of ATP synthase shape the inner mitochondrial membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Macromolecular organization of ATP synthase and complex I in whole mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

A mild impairment of mitochondrial electron transport has sex-specific effects on lifespan and aging in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

NDUFS4: creation of a mouse model mimicking a Complex I disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Mammalian copper chaperone Cox17p has an essential role in activation of cytochrome C oxidase and embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Nuclear genetic defects of oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Knockdown of F1 epsilon subunit decreases mitochondrial content of ATP synthase and leads to accumulation of subunit c.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Self-assembly of ATP synthase subunit c rings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

In vivo inhibition of the mitochondrial H+-ATP synthase in neurons promotes metabolic preconditioning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

REDOX regulation of early embryo development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Mitochondrial Diseases and Cardiomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Highly-efficient, fluorescent, locus directed cre and FlpO deleter mice on a pure C57BL/6N genetic background.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

High resolution clear native electrophoresis for in-gel functional assays and fluorescence studies of membrane protein complexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Impaired noradrenaline-induced lipolysis in white fat of aP2-Ucp1 transgenic mice is associated with changes in G-protein levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Confocal imaging of the embryonic heart: how deep?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

Mitochondrial genome acquisition restores respiratory function and tumorigenic potential of cancer cells without mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

TMEM70 protein — A novel ancillary factor of mammalian ATP synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

A novel deficiency of mitochondrial ATPase of nuclear origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW295

21 January 2018

Identifiers

DOI

10.1093/HMG/DDW295

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173120%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference