about
Premature ageing in mice expressing defective mitochondrial DNA polymeraseLRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAsIntra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRespiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster.Increased mitochondrial mass in mitochondrial myopathy miceMTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals.Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.SUV3 helicase is required for correct processing of mitochondrial transcripts.Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathyComplementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies.Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.Respiratory chain dysfunction in skeletal muscle does not cause insulin resistance.Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathy.A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator mice.RNA modification landscape of the human mitochondrial tRNA regulates protein synthesisChorea, psychosis, acanthocytosis, and prolonged survival associated with mutationsEffects of high resistance training in patients with myotonic dystrophyMyoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusionsModulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouseSQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal NeurodifferentiationMutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNAAbsence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on PyruvateDefects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivoC6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Anna Wredenberg
@ast
Anna Wredenberg
@en
Anna Wredenberg
@es
Anna Wredenberg
@nl
type
label
Anna Wredenberg
@ast
Anna Wredenberg
@en
Anna Wredenberg
@es
Anna Wredenberg
@nl
prefLabel
Anna Wredenberg
@ast
Anna Wredenberg
@en
Anna Wredenberg
@es
Anna Wredenberg
@nl
P106
P21
P31
P496
0000-0002-2500-6121