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
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
Braczynski AK et al.
Biomed Research International, 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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