TMEM70 functions in the assembly of complexes I and V. PMID: 32275929
TMEM70 forms oligomeric scaffolds within mitochondrial cristae promoting in situ assembly of mammalian ATP synthase proton channel. PMID: 33359711
TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I. PMID: 33753518
TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation. PMID: 30950220
TMEM70 facilitates biogenesis of mammalian ATP synthase by promoting subunit c incorporation into the rotor structure of the enzyme. PMID: 31652072
TMEM70 deficiency: long-term outcome of 48 patients. PMID: 25326274
Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat. PMID: 35203486
Expression and processing of the TMEM70 protein. PMID: 20937241
Mitochondrial membrane assembly of TMEM70 protein. PMID: 24576557
Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice. PMID: 28173120
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. PMID: 18953340
TMEM70 protein - a novel ancillary factor of mammalian ATP synthase. PMID: 19103153
Downregulation of TMEM70 in Rat Liver Cells After Hepatocarcinogen Treatment Related to the Warburg Effect in Hepatocarcinogenesis Producing GST-P-Expressing Proliferative Lesions. PMID: 28903497
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy. PMID: 24740313
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. PMID: 21147908
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. PMID: 22986587
Erratum to: TMEM70 deficiency: long-term outcome of 48 patients. PMID: 25778942
A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy. PMID: 23235116
Identification of epigenetically downregulated Tmem70 and Ube2e2 in rat liver after 28-day treatment with hepatocarcinogenic thioacetamide showing gene product downregulation in hepatocellular preneoplastic and neoplastic lesions produced by tumor promotion. PMID: 27914986
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. PMID: 20920610
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. PMID: 26550569
Mitochondrial Cardiomyopathies. PMID: 27504452
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. PMID: 20335238
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. PMID: 24485043
Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015. PMID: 34956313
A Novel Gene Prognostic Signature Based on Differential DNA Methylation in Breast Cancer. PMID: 25825456
Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family. PMID: 27649480
Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency. PMID: 27896093
Neonatal pulmonary hypertension in mitochondrial disorders due to TMEM70 mutations. PMID: 36751706
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency. PMID: 22433607
Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation. PMID: 21945727
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology. PMID: 24564666
Nuclear genetic defects of mitochondrial ATP synthase. PMID: 23382305
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. PMID: 30899493
Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report. PMID: 21815885
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. PMID: 20728387
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. PMID: 23866288
[Mitochondrial disorders associated with mitochondrial respiratory chain complex V deficiency]. PMID: 31729175
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis. PMID: 23296368
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. PMID: 23355087
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. PMID: 19015156
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. PMID: 26813553
[Relationship between electrocardiographic and genetic mutation (MYH7-H1717Q, MYLK2-K324E and KCNQ1-R190W) phenotype in patients with hypertrophic cardiomyopathy]. PMID: 29978770
Investigation of myocardial dysfunction using three-dimensional speckle tracking echocardiography in a genetic positive hypertrophic cardiomyopathy Chinese family. PMID: 36185699
Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia. PMID: 26214044
Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders. PMID: 32736646
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders. PMID: 28526534
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. PMID: 24757000
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. PMID: 26675066
Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry. PMID: 23707711
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. PMID: 20139910
Amplification of 8q21 in breast cancer is independent of MYC and associated with poor patient outcome. PMID: 22231385
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. PMID: 30114719
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients. PMID: 24499791
Screening of cellular proteins that interact with the classical swine fever virus non-structural protein 5A by yeast two-hybrid analysis. PMID: 20566710
IRF-1 Regulates Mitochondrial Respiration and Intrinsic Apoptosis Under Metabolic Stress through ATP Synthase Ancillary Factor TMEM70., PMID:39641858
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase., PMID:39016153
A Comprehensive Prognostic Model for Colon Adenocarcinoma Depending on Nuclear-Mitochondrial-Related Genes., PMID:38832431
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency., PMID:36751706
Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat., PMID:35203486
A Novel Gene Prognostic Signature Based on Differential DNA Methylation in Breast Cancer., PMID:34956313
TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I., PMID:33753518
TMEM70 forms oligomeric scaffolds within mitochondrial cristae promoting in situ assembly of mammalian ATP synthase proton channel., PMID:33359711
TMEM70 functions in the assembly of complexes I and V., PMID:32275929
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis., PMID:31729175
TMEM70 facilitates biogenesis of mammalian ATP synthase by promoting subunit c incorporation into the rotor structure of the enzyme., PMID:31652072
TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation., PMID:30950220
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients., PMID:30114719
Investigation of myocardial dysfunction using three-dimensional speckle tracking echocardiography in a genetic positive hypertrophic cardiomyopathy Chinese family., PMID:29978770
Downregulation of TMEM70 in Rat Liver Cells After Hepatocarcinogen Treatment Related to the Warburg Effect in Hepatocarcinogenesis Producing GST-P-Expressing Proliferative Lesions., PMID:28903497
Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice., PMID:28173120
Identification of epigenetically downregulated Tmem70 and Ube2e2 in rat liver after 28-day treatment with hepatocarcinogenic thioacetamide showing gene product downregulation in hepatocellular preneoplastic and neoplastic lesions produced by tumor promotion., PMID:27914986
Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency., PMID:27649480
Mitochondrial Cardiomyopathies., PMID:27504452
Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015., PMID:27454254
[Relationship between electrocardiographic and genetic mutation (MYH7-H1717Q, MYLK2-K324E and KCNQ1-R190W) phenotype in patients with hypertrophic cardiomyopathy]., PMID:26813553
Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry., PMID:26675066
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment., PMID:26550569
Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family., PMID:25825456
TMEM70 deficiency: long-term outcome of 48 patients., PMID:25326274
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy., PMID:24740313
Mitochondrial membrane assembly of TMEM70 protein., PMID:24576557
Nuclear genetic defects of mitochondrial ATP synthase., PMID:24564666
Screening of cellular proteins that interact with the classical swine fever virus non-structural protein 5A by yeast two-hybrid analysis., PMID:24499791
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients., PMID:24485043
[Mitochondrial disorders associated with mitochondrial respiratory chain complex V deficiency]., PMID:23866288
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria., PMID:23707711
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes., PMID:23382305
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature., PMID:23296368
A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy., PMID:23235116
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis., PMID:22986587
Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation., PMID:22433607
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology., PMID:21945727
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria., PMID:21815885
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome., PMID:21147908
Expression and processing of the TMEM70 protein., PMID:20937241
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization., PMID:20920610
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70., PMID:20728387
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit., PMID:20566710
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation., PMID:20335238
TMEM70 protein - a novel ancillary factor of mammalian ATP synthase., PMID:19103153
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy., PMID:19015156
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy., PMID:18953340
For research use only. Not for human or drug use.
