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Literature citations Results

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

Cizkova A., Stranecky V., Mayr J.A., Tesarova M., Havlickova V., Paul J., Ivanek R., Kuss A.W., Hansikova H., Kaplanova V. et al.

Nat. Genet. 40:1288-1290(2008) · UniProtKB (1) · Mapped (1)

Role of the mitochondrial ATP synthase central stalk subunits gamma and delta in the activity and assembly of the mammalian enzyme.

Pecina P., Nuskova H., Karbanova V., Kaplanova V., Mracek T., Houstek J.

Biochim Biophys Acta Bioenerg 1859:374-381(2018) · Mapped (9)

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

Mayr J.A., Havlickova V., Zimmermann F., Magler I., Kaplanova V., Jesina P., Pecinova A., Nuskova H., Koch J., Sperl W. et al.

Hum. Mol. Genet. 19:3430-3439(2010) · UniProtKB (1)

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

Havlickova V., Kaplanova V., Nuskova H., Drahota Z., Houstek J.

Biochim. Biophys. Acta 1797:1124-1129(2010) · Mapped (1)

Expression and processing of the TMEM70 protein.

Hejzlarova K., Tesarova M., Vrbacka-Cizkova A., Vrbacky M., Hartmannova H., Kaplanova V., Noskova L., Kratochvilova H., Buzkova J., Havlickova V. et al.

Biochim. Biophys. Acta 1807:144-149(2011) · UniProtKB (1) · Mapped (1)

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Hartmannova H., Piherova L., Tauchmannova K., Kidd K., Acott P.D., Crocker J.F., Oussedik Y., Mallet M., Hodanova K., Stranecky V. et al.

Hum. Mol. Genet. 25:4062-4079(2016) · Mapped (5)

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