Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2010 1
2014 1
2015 1
2016 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Citations

1 article found by citation matching

Search results

Filters applied: . Clear all
Page 1
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S. Cízková A, et al. Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953340
We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. ...Our results sho …
We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondr …
Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat.
Marković A, Tauchmannová K, Šimáková M, Mlejnek P, Kaplanová V, Pecina P, Pecinová A, Papoušek F, Liška F, Šilhavý J, Mikešová J, Neckář J, Houštěk J, Pravenec M, Mráček T. Marković A, et al. Biomedicines. 2022 Jan 26;10(2):276. doi: 10.3390/biomedicines10020276. Biomedicines. 2022. PMID: 35203486 Free PMC article.
Mutations of the TMEM70 gene disrupt the biogenesis of the ATP synthase and represent the most frequent cause of autosomal recessive encephalo-cardio-myopathy with neonatal onset. Patient tissues show isolated defects in the ATP …
Mutations of the TMEM70 gene disrupt the biogenesis of the ATP synthase and represent the most frequent cause …
Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice.
Vrbacký M, Kovalčíková J, Chawengsaksophak K, Beck IM, Mráček T, Nůsková H, Sedmera D, Papoušek F, Kolář F, Sobol M, Hozák P, Sedlacek R, Houštěk J. Vrbacký M, et al. Hum Mol Genet. 2016 Nov 1;25(21):4674-4685. doi: 10.1093/hmg/ddw295. Hum Mol Genet. 2016. PMID: 28173120
Mutations of the TMEM70 gene represent the most frequent cause of isolated ATP synthase deficiency resulting in a severe mitochondrial disease presenting as neonatal encephalo-cardiomyopathy (OMIM 604273). ...Blue-Native ele …
Mutations of the TMEM70 gene represent the most frequent cause of isolated ATP synthase deficie …
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.
Diodato D, Invernizzi F, Lamantea E, Fagiolari G, Parini R, Menni F, Parenti G, Bollani L, Pasquini E, Donati MA, Cassandrini D, Santorelli FM, Haack TB, Prokisch H, Ghezzi D, Lamperti C, Zeviani M. Diodato D, et al. JIMD Rep. 2015;15:71-8. doi: 10.1007/8904_2014_300. Epub 2014 Apr 17. JIMD Rep. 2015. PMID: 24740313 Free PMC article.
In addition to maternally transmitted cV dysfunction caused by mutations in mtDNA genes (MT-ATP6 or MT-ATP8), encoding cV subunits, recessive mutations in the nuclear TMEM70 are the most frequent cause of ATP synthase deficiency …
In addition to maternally transmitted cV dysfunction caused by mutations in mtDNA genes (MT-ATP6 or MT-ATP8), encoding cV subu …
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
Mayr JA, Havlícková V, Zimmermann F, Magler I, Kaplanová V, Jesina P, Pecinová A, Nusková H, Koch J, Sperl W, Houstek J. Mayr JA, et al. Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21. Hum Mol Genet. 2010. PMID: 20566710
So far, mitochondrial diseases caused by isolated disorders of the ATP synthase have been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors TMEM70 and ATPAF2. …
So far, mitochondrial diseases caused by isolated disorders of the ATP synthase have been shown to result from …