about
2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylaseC6ORF66 is an assembly factor of mitochondrial complex IMutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial diseaseDeficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionDistinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsThe deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNAMutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathyMice deficient in ribosomal protein S6 phosphorylation suffer from muscle weakness that reflects a growth defect and energy deficitScreening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compoundCalmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain FunctionRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberNovel selective human mitochondrial kinase inhibitors: design, synthesis and enzymatic activity.The transgenic overexpression of alpha-synuclein and not its related pathology associates with complex I inhibition.Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathyThe interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion.Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.Peripheral nerve injury induces Schwann cells to express two macrophage phenotypes: phagocytosis and the galactose-specific lectin MAC-2.Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.Ceramide and the mitochondrial respiratory chain.Deoxyribonucleotides and disorders of mitochondrial DNA integrity.Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyMitochondrial complex III deficiency associated with a homozygous mutation in UQCRQThe effect of small molecules on nuclear-encoded translation diseases.Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.PF-4708671 activates AMPK independently of p70S6K1 inhibition.Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasiaFatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.Ablation of ceramide synthase 2 causes chronic oxidative stress due to disruption of the mitochondrial respiratory chainThe effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.Adherence of Ureaplasma urealyticum to human erythrocytes.Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.Protection of a ceramide synthase 2 null mouse from drug-induced liver injury: role of gap junction dysfunction and connexin 32 mislocalizationCap-independent translation by DAP5 controls cell fate decisions in human embryonic stem cells.Acute infantile liver failure due to mutations in the TRMU gene.Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations
P50
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P50
description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Ann Saada
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Ann Saada
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Ann Saada
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Ann Saada
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A Saada-Reisch AB Reisch-Saada AB Saada A Saada-Reich
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Ann Saada
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P108
P1053
J-6864-2017
P106
P1153
7005672227
P21
P31
P3829
P496
0000-0003-2951-0656