TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
about
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathyTMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophyMitochondrial CardiomyopathiesMitochondria as a therapeutic target in heart failureSudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometryPrimary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling networkHistorical perspective on mitochondrial medicineA mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations.Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic AcidosisIntegrative analysis of independent transcriptome data for rare diseasesMetabolic biology of 3-methylglutaconic acid-uria: a new perspective.Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction.Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast modelA yeast-based assay identifies drugs active against human mitochondrial disordersThe 3-methylglutaconic acidurias: what's new?Mitochondrial ATP synthase: architecture, function and pathology.Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyMitochondrial protein sorting as a therapeutic target for ATP synthase disorders.Renal mitochondrial cytopathies.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.The mitochondrial proteome and human disease.Biochemical investigation of a human pathogenic mutation in the nuclear ATP5E gene using yeast as a model.Nuclear membrane diversity: underlying tissue-specific pathologies in disease?The nuclear envelope proteome differs notably between tissues.Alterations in the Brain Transcriptome in Plasmodium Berghei ANKA Infected Mice.Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.Regulation of mitochondrial respiratory chain biogenesis by estrogens/estrogen receptors and physiological, pathological and pharmacological implications.Synthesis of cytochrome c oxidase subunit 1 is translationally downregulated in the absence of functional F1F0-ATP synthase.Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.The genetics and pathology of mitochondrial disease.Tissue specificity in the nuclear envelope supports its functional complexity.Mechanisms of mitochondrial diseases.Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.Impact of gold nanoparticles on brain of mice infected with Schistosoma mansoni.Amplification of 8q21 in breast cancer is independent of MYC and associated with poor patient outcome.Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology.ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
P2860
Q24301657-71B3B2D5-82C6-44A9-B354-6E46DDC5E9BEQ24310438-32DA1E60-071A-41CB-AF43-E395FEF35015Q26738378-78459181-334E-4499-926A-5E59A51EA7D4Q27005632-6F315C18-D843-433E-BD95-8A9996C58DEBQ28118605-60857687-0A08-4F42-B70C-F311253589E0Q28393214-A4AD3FB7-7B15-41A0-B3E2-75328AF7172CQ28534824-16E2F0F1-A62D-4099-A1D1-615755078617Q28661465-A03A6DAF-F7FE-4604-ACD2-164947D4F553Q29465776-39959950-E77D-4737-9C77-45AC5FDEA006Q30371716-EDDD4AE3-4DC6-4271-B397-6F8E73EB402BQ30834218-E08029D1-BAEF-4408-813E-009CEF9BA459Q33590834-05DCA50A-816D-42DD-A2FE-D26714C019D5Q33617779-0DB46828-6664-487A-9F09-0B7DC534D752Q33662323-F8743630-FFA4-490B-B3A2-7953A4AB187CQ33946234-A27F23FC-F991-4A29-A4BD-DDEF35ADE795Q34140909-951B57B5-17EC-4269-AA0B-6063E8B5B664Q34211463-2B6F463D-0F59-4B64-A49E-B190B48CBE1BQ34250205-F3AE8D63-846C-4D60-AA4D-C7FB6EFCE745Q34734718-A04B17C1-8482-4117-8A43-AA305B468776Q34836208-7E35E5AF-5097-4220-9131-753AAA65D7CAQ35137727-F998F0BA-4E6E-4F4B-B9EB-E031374B54BDQ35190973-3BCB43C4-B6FC-4026-8ABA-3FE828A8B349Q35427460-C298EEF0-7F56-4613-9E0D-9E7C7F478F28Q35531244-3ECC0891-AFBA-4635-B673-09BAA771EDC0Q35909029-7A04C67E-0D10-4F81-8106-0E38A8DDB0B1Q36448569-B417F2D7-70F2-4C39-9041-55BB83D75C36Q36653117-8DBA820B-1638-4B2D-9501-928CADE5A337Q36826862-7D308064-ADEB-4E20-B34D-E31B489BA928Q37348421-89FA5D39-4083-4F8B-8625-DE38783507A4Q37394160-6453461E-C5C3-4C79-9B3D-98053E360A8BQ37547480-70E08389-52F8-48E3-BE84-DC2B64F71CF3Q37560946-4178F991-B873-4D8D-A1F9-B0E4CF77B548Q37586979-19F56F84-85FB-4DF5-98CE-514DCF5FBF2BQ37909459-AA9C71FD-016A-4057-AC26-907C0C6A7CAAQ38072306-231B8C15-4904-4F90-A010-65DB19D0789EQ38974533-B25DE5DF-F997-4A50-8FF9-D6A5A1031941Q39742324-F85BAA77-9AD6-49FA-A18E-1A1763A141B5Q39849450-C54E3C0D-5D1F-4055-AB01-1CC5F5CBEDD2Q41772481-1C201860-CD5E-4873-A312-5B7495650E74Q41836048-09B8F608-F373-41D3-879D-E5E23AB2F129
P2860
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@ast
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@en
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@en-gb
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@nl
type
label
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@ast
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@en
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@en-gb
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@nl
prefLabel
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@ast
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@en
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@en-gb
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@nl
P2093
P50
P921
P3181
P356
P1433
P1476
TMEM70 mutations cause isolate ...... ndrial encephalocardiomyopathy
@en
P2093
Alena Cízková
Andreas W Kuss
Hana Hansíková
Josef Houstek
Katerina Hejzlarová
Stanislav Kmoch
Vendula Havlícková
Vilma Kaplanová
Wolfgang Sperl
P2888
P304
P3181
P356
10.1038/NG.246
P407
P50
P577
2008-10-26T00:00:00Z
P6179
1019578664