about
Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidaseSDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsA mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stabilityMutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionCombined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseMicroscale oxygraphy reveals OXPHOS impairment in MRC mutant cellsRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberA guide to diagnosis and treatment of Leigh syndrome.Kearns-Sayre syndrome: a case series of 35 adults and childrenModulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.Novel (ovario) leukodystrophy related to AARS2 mutationsMitochondrial ATP synthase: architecture, function and pathology.NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.Mitochondrial DNA damage as a peripheral biomarker for mitochondrial toxin exposure in ratsDeletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease SeverityGDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.Mitochondrial ADP/ATP exchange inhibition: a novel off-target mechanism underlying ibipinabant-induced myotoxicityIncreased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia.Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and developmentGenotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma.Roles of sirtuins in the regulation of antioxidant defense and bioenergetic function of mitochondria under oxidative stress.When to Suspect and How to Diagnose Mitochondrial Disorders?Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach.Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.Microbial stimulation of different Toll-like receptor signalling pathways induces diverse metabolic programmes in human monocytes.A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease.Cytochrome c oxidase deficit is associated with the seizure onset zone in young patients with focal cortical dysplasia Type II.A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.Peculiarities and pitfalls of quantifying mitochondrial energy metabolism in the skin.Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cells.Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Questions.Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.Endothelial ultrastructural alterations of intramuscular capillaries in infantile mitochondrial cytopathies: "mitochondrial angiopathy".EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.Rhodamine-based sensor for real-time imaging of mitochondrial ATP in living fibroblasts.SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Biochemical diagnosis of mitochondrial disorders
@ast
Biochemical diagnosis of mitochondrial disorders
@en
Biochemical diagnosis of mitochondrial disorders
@nl
type
label
Biochemical diagnosis of mitochondrial disorders
@ast
Biochemical diagnosis of mitochondrial disorders
@en
Biochemical diagnosis of mitochondrial disorders
@nl
prefLabel
Biochemical diagnosis of mitochondrial disorders
@ast
Biochemical diagnosis of mitochondrial disorders
@en
Biochemical diagnosis of mitochondrial disorders
@nl
P2860
P921
P1476
Biochemical diagnosis of mitochondrial disorders
@en
P2093
Richard J T Rodenburg
P2860
P2888
P304
P356
10.1007/S10545-010-9081-Y
P407
P577
2011-04-01T00:00:00Z
P5875
P6179
1042592863