Joanna Poulton

Nuffield Department of Obstetrics and Gynaecology, University of Oxford

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 32	2017

Other Publications

Article	Year
Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Human molecular genetics\| PubMed ID: 12045211	2002
Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications. Reproduction (Cambridge, England)\| PubMed ID: 12052229	2002
Detection of mitochondrial DNA depletion in living human cells using PicoGreen staining. Experimental cell research\| PubMed ID: 15652355	2005
Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 ye... The Journal of clinical endocrinology and metabolism\| PubMed ID: 17535991	2007
Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion. Mitochondrion\| PubMed ID: 17981517	2007
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Human molecular genetics\| PubMed ID: 18487244	2008
Mitochondrial DNA is a direct target of anti-cancer anthracycline drugs. Biochemical and biophysical research communications\| PubMed ID: 19032935	2009
Preventing transmission of maternally inherited mitochondrial DNA diseases. BMJ (Clinical research ed.)\| PubMed ID: 19181733	2009
The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study. BMC medical genetics\| PubMed ID: 19397801	2009
163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands. Neuromuscular disorders : NMD\| PubMed ID: 19464176	2009
Anticancer DNA intercalators cause p53-dependent mitochondrial DNA nucleoid re-modelling. Oncogene\| PubMed ID: 19684617	2009
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). Biochimica et biophysica acta\| PubMed ID: 19748572	2009
174th ENMC international workshop: Applying pre-implantation genetic diagnosis to mtDNA diseases: implications of scientific advances 19-21 March 2010, Naarden, The Netherlands. Neuromuscular disorders : NMD\| PubMed ID: 20627569	2010
Transmission of mitochondrial DNA diseases and ways to prevent them. PLoS genetics\| PubMed ID: 20711358	2010
Therapeutic treatments of mtDNA diseases at the earliest stages of human development. Mitochondrion\| PubMed ID: 21147275	2011
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain : a journal of neurology\| PubMed ID: 23107649	2012
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. Epilepsia\| PubMed ID: 23448099	2013
The association of the mitochondrial DNA OriB variant (16184-16193 polycytosine tract) with type 2 diabetes in Europid populations. Diabetologia\| PubMed ID: 23702607	2013
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. European journal of human genetics : EJHG\| PubMed ID: 23714749	2014
Unexplained gastrointestinal symptoms: Think mitochondrial disease. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver\| PubMed ID: 23768727	2013
A national perspective on prenatal testing for mitochondrial disease. European journal of human genetics : EJHG\| PubMed ID: 24642831	2014
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult. Practical neurology\| PubMed ID: 24828681	2014
MtDNA segregation in heteroplasmic tissues is common in vivo and modulated by haplotype differences and developmental stage. Cell reports\| PubMed ID: 24910436	2014
Mitochondrial DNA disease and developmental implications for reproductive strategies. Molecular human reproduction\| PubMed ID: 25425607	2015
Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model. Toxicology\| PubMed ID: 25745980	2015
Is Placental Mitochondrial Function a Regulator that Matches Fetal and Placental Growth to Maternal Nutrient Intake in the Mouse? PloS one\| PubMed ID: 26132581	2015
Metabolic rescue in pluripotent cells from patients with mtDNA disease. Nature\| PubMed ID: 26176921	2015
A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against path... Pharmacological research\| PubMed ID: 26196248	2015
Resistance of Dynamin-related Protein 1 Oligomers to Disassembly Impairs Mitophagy, Resulting in Myocardial Inflammation and Heart Failure. The Journal of biological chemistry\| PubMed ID: 26370078	2015
Mitochondrial content is central to nuclear gene expression: Profound implications for human health. BioEssays : news and reviews in molecular, cellular and developmental biology\| PubMed ID: 26725055	2016
The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy. Neurology\| PubMed ID: 27164671	2016
Mitophagy plays a central role in mitochondrial ageing. Mammalian genome : official journal of the International Mammalian Genome Society\| PubMed ID: 27352213	2016
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. Journal of pediatric gastroenterology and nutrition\| PubMed ID: 27482763	2016
Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children. Biochemical Society transactions\| PubMed ID: 27528757	2016
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy. Neurology. Genetics\| PubMed ID: 27536729	2016
Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation. Neuromuscular disorders : NMD\| PubMed ID: 27618137	2016
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology\| PubMed ID: 27974645	2017
Childhood-onset Leber hereditary optic neuropathy. The British journal of ophthalmology\| PubMed ID: 28314831	2017
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. Neurology. Genetics\| PubMed ID: 28508084	2017
Genetic Counselling for Maternally Inherited Mitochondrial Disorders. Molecular diagnosis & therapy\| PubMed ID: 28536827	2017
Modulating mitophagy in mitochondrial disease. Current medicinal chemistry\| PubMed ID: 28618992	2017
Erratum to: Genetic Counselling for Maternally Inherited Mitochondrial Disorders. Molecular diagnosis & therapy\| PubMed ID: 28676952	2017
Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice. Journal of clinical medicine\| PubMed ID: 28825656	2017