about
Intra-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.Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins.MTERF3 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 myopathyVariation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease.No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline.Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element.Respiratory chain dysfunction in skeletal muscle does not cause insulin resistance.MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.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.Chorea, psychosis, acanthocytosis, and prolonged survival associated with mutationsMyoglobinopathy 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.Is energy deficiency good in moderation?Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial diseaseAbsence 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 vivoMetabolic regulation of neurodifferentiation in the adult brainC6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis
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description
hulumtues
@sq
onderzoeker
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researcher
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հետազոտող
@hy
name
Christoph Freyer
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Christoph Freyer
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Christoph Freyer
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Christoph Freyer
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Christoph Freyer
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type
label
Christoph Freyer
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Christoph Freyer
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Christoph Freyer
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Christoph Freyer
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Christoph Freyer
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prefLabel
Christoph Freyer
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Christoph Freyer
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Christoph Freyer
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Christoph Freyer
@nl
Christoph Freyer
@sl
P106
P1153
22941125800
P21
P31
P496
0000-0003-0418-1673