TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. (Q46028195)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Enrico Bertini

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Rosalba Carrozzo

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Carlo Dionisi-Vici

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Filippo Maria Santorelli

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

author name string

Alessandra Torraco

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Daniela Verrigni

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Teresa Rizza

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Maria Chiara Meschini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Martha Elisa Vazquez-Memije

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Diego Martinelli

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Marzia Bianchi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

publication date

18 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

375-386

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22986587%20AND%20SRC:MED&resulttype=core&format=json

Fo membrane domain of ATP synthase from bovine heart mitochondria: purification, subunit composition, and reconstitution with F1-ATPase.

13 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Structural analysis of ATP synthase from bovine heart mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Molecular architecture of the rotary motor in ATP synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Assembly factors of F1FO-ATP synthase across genomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Modular assembly of yeast mitochondrial ATP synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

F1-dependent translation of mitochondrially encoded Atp6p and Atp8p subunits of yeast ATP synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Active oligomeric ATP synthases in mammalian mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Mitochondrial ATP synthase: architecture, function and pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Expression and processing of the TMEM70 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

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/10.1007%2FS10048-012-0343-8

Mitochondrial diseases and ATPase defects of nuclear origin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

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/10.1007%2FS10048-012-0343-8

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Blue Native electrophoresis to study mitochondrial and other protein complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Assembly and oligomerization of human ATP synthase lacking mitochondrial subunits a and A6L.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Efficacy of oral sildenafil in a beraprost-treated patient with severe pulmonary hypertension secondary to type I glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Echocardiographic study of paediatric patients with mucopolysaccharidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Hurler's syndrome with cor pulmonale secondary to obstructive sleep apnoea treated by continuous positive airway pressure

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Mechanisms of disease: pulmonary arterial hypertension.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

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/10.1007%2FS10048-012-0343-8

Time-course of mitochondrial gene expressions in mice brains: implications for mitochondrial dysfunction, oxidative damage, and cytochrome c in aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

TMEM70 protein — A novel ancillary factor of mammalian ATP synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

A novel deficiency of mitochondrial ATPase of nuclear origin

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS10048-012-0343-8

21 January 2018

12 December 2020

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

1 reference

12 December 2020

Pulmonary hypertension associated with nonketotic hyperglycinaemia

1 reference

12 December 2020

Assembly of mitochondrial ATP synthase in cultured human cells: implications for mitochondrial diseases

1 reference

12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

12 December 2020

Mucolipidosis II complicated by severe pulmonary hypertension

1 reference

12 December 2020

Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria

1 reference

12 December 2020

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

1 reference

12 December 2020

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

1 reference

12 December 2020