Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit
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Mitochondrial geneticsThe INA complex facilitates assembly of the peripheral stalk of the mitochondrial F1Fo-ATP synthaseSudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic AcidosisThe 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 EncephalocardiomyopathyPseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locusMitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.p53 Enables metabolic fitness and self-renewal of nephron progenitor cellsBiochemical investigation of a human pathogenic mutation in the nuclear ATP5E gene using yeast as a model.Understanding structure, function, and mutations in the mitochondrial ATP synthase.Glutathione s-transferase omega 1 activity is sufficient to suppress neurodegeneration in a Drosophila model of Parkinson diseaseTMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.Mitochondrial genetic diseases.Targeted exome sequencing of suspected mitochondrial disorders.DNA methylation landscape of fat deposits and fatty acid composition in obese and lean pigs.The genetics and pathology of mitochondrial disease.Mechanisms of mitochondrial diseases.Molecular mechanisms of cell death: central implication of ATP synthase in mitochondrial permeability transition.Loss of LRPPRC causes ATP synthase deficiencyTissue-Specific Functions of p53 During Kidney Development.CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets.RNA-Seq transcriptome profiling of mouse oocytes after in vitro maturation and/or vitrification.TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.The Arcuate Estrogen-Regulated Transcriptome: Estrogen Response Element-Dependent and -Independent Signaling of ERα in Female Mice.Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice.Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Genetic inhibition of an ATP synthase subunit extends lifespan in C. elegansHuman diseases associated with defects in assembly of OXPHOS complexesCharacterization of Drosophila ATPsynC mutants as a new model of mitochondrial ATP synthase disordersNeonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
P2860
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P2860
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@ast
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@en
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@en-gb
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@nl
type
label
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@ast
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@en
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@en-gb
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@nl
prefLabel
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@ast
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@en
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@en-gb
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@nl
P2093
P50
P356
P1476
Mitochondrial ATP synthase def ...... ene for the F1 epsilon subunit
@en
P2093
Alena Pecinová
Franz Zimmermann
Hana Nusková
Iris Magler
Johannes Koch
Josef Houstek
Vendula Havlícková
Vilma Kaplanová
Wolfgang Sperl
P304
P356
10.1093/HMG/DDQ254
P407
P577
2010-09-01T00:00:00Z