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Author Details

Monika Ol??hov??
Translational and Clinical Research Institute, Newcastle University
2008
32
20
PMIDPaper TitleJournal TitlePublished Year
36635110Mitochondrial signalling and homeostasis: from cell biology to neurological disease.Trends Neurosci2023
37558808Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.Eur J Hum Genet2023
35914810Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanisms.Life Sci Alliance2022
36231115A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi Families.Cells2022
34313536ATG7 safeguards human neural integrity.Autophagy2021
33602924POLRMT mutations impair mitochondrial transcription causing neurological disease.Nat Commun2021
34725936Emerging roles of ATG7 in human health and disease.EMBO Mol Med2021
34680998Interrogating Mitochondrial Biology and Disease Using CRISPR/Cas9 Gene Editing.Genes (Basel)2021
34161705Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.N Engl J Med2021
31021000Recent advances in understanding the molecular genetic basis of mitochondrial disease.J Inherit Metab Dis2020
32969598Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.EMBO Mol Med2020
32684384A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.Neuromuscul Disord2020
32481479Mitochondrial OXPHOS Biogenesis: Co-Regulation of Protein Synthesis, Import, and Assembly Pathways.Int J Mol Sci2020
30285085Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.Hum Mol Genet2019
31435670Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.Hum Mol Genet2019
29478781Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Am J Hum Genet2018
30201738<i>OXA1L</i> mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.EMBO Mol Med2018
29979980Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.Am J Hum Genet2018
29518248Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.Hum Mol Genet2018
29517768Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.Genet Med2018
27696117Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.J Inherit Metab Dis2017
28942965Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.Am J Hum Genet2017
29142257Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.Sci Rep2017
27091925A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.J Med Genet2016
27374774Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.Am J Hum Genet2016
25293719A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.Eur J Hum Genet2015
26510951LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Brain2015
26008905A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.Hum Genet2015
25808059A peroxiredoxin, PRDX-2, is required for insulin secretion and insulin/IIS-dependent regulation of stress resistance and longevity.Aging Cell2015
25204677Genome-wide screening identifies new genes required for stress-induced phase 2 detoxification gene expression in animals.BMC Biol2014
21884972Translating a low-sugar diet into a longer life by maintaining thioredoxin peroxidase activity of a peroxiredoxin.Mol Cell2011
19064914A redox-sensitive peroxiredoxin that is important for longevity has tissue- and stress-specific roles in stress resistance.Proc Natl Acad Sci U S A2008
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