Associated Papers
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
Mackay L et al.
American Journal of Medical Genetics. Part A, 2023
From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases.
Garone C et al.
Life (basel, Switzerland), 2022
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
[Molecular bases of diseases caused by mutations in genes encoding subunits of ATP synthase].
Baranowska E et al.
Postepy Biochemii, 2018
TMEM70 deficiency: long-term outcome of 48 patients.
Magner M et al.
Journal of Inherited Metabolic Disease, 2015
Mitochondrial membrane assembly of TMEM70 protein.
Kratochvílová H et al.
Mitochondrion, 2014
Nuclear genetic defects of mitochondrial ATP synthase.
Hejzlarová K et al.
Physiological Research, 2014
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
Spiegel R et al.
Journal of Medical Genetics, 2011
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
Cameron JM et al.
Mitochondrion, 2011
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
Mayr JA et al.
Human Molecular Genetics, 2010
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
Honzík T et al.
Archives of Disease in Childhood, 2010
TMEM70 protein - a novel ancillary factor of mammalian ATP synthase.
Houstek J et al.
Biochimica Et Biophysica Acta, 2009
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
Cízková A et al.
Nature Genetics, 2008
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.
Shchelochkov OA et al.
Molecular Genetics and Metabolism, 0
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