Mitochondria

Selected publications

• Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

  Journal article

  Liao C. et al, (2017), Neurology, 88, 131 - 142

• Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model

  Journal article

  Komulainen T. et al, (2015), Toxicology, 331, 47 - 56

• Mitochondrial DNA disease and developmental implications for reproductive strategies

  Journal article

  Burgstaller JP. et al, (2015), MHR: Basic science of reproductive medicine, 21, 11 - 22

• Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult

  Journal article

  Aurangzeb S. et al, (2014), Practical Neurology, 14, 432 - 436

• A national perspective on prenatal testing for mitochondrial disease

  Journal article

  Nesbitt V. et al, (2014), European Journal of Human Genetics, 22, 1255 - 1259

• Simultaneous assessment of aneuploidy, polymorphisms, and mitochondrial DNA content in human polar bodies and embryos with the use of a novel microarray platform

  Journal article

  Konstantinidis M. et al, (2014), Fertility and Sterility, 102, 1385 - 1392

• Cryotolerance of stallion spermatozoa is related to ROS production and mitochondrial membrane potential rather than to the integrity of sperm nucleus

  Journal article

  Yeste M. et al, (2015), Andrology, 3, 395 - 407

• G.P.191

  Conference paper

  Cortese A. et al, (2014), Neuromuscular Disorders, 24, 867 - 867

• The confounding effect of age in the use of subsarcolemmal mitochondrial aggregates (SSMA) as a diagnostic muscle biopsy marker in paediatric mitochondrial disease

  Conference paper

  Cortese A. et al, (2014), NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 40, 16 - 16

• Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

  Journal article

  Uusimaa J. et al, (2014), European Journal of Human Genetics, 22, 184 - 191

• Oligomycin A-induced inhibition of mitochondrial ATP-synthase activity suppresses boar sperm motility and in vitro capacitation achievement without modifying overall sperm energy levels

  Journal article

  Ramió-Lluch L. et al, (2014), Reproduction, Fertility and Development, 26, 883 - 883

• Unexplained gastrointestinal symptoms: Think mitochondrial disease

  Journal article

  Chapman TP. et al, (2014), Digestive and Liver Disease, 46, 1 - 8

• A national perspective on prenatal testing for mitochondrial disease

  Journal article

  Nesbitt V. et al, (2014), European Journal of Human Genetics, 22, 1255 - 1259

• Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

  Journal article

  McKiernan P. et al, (2016), Journal of Pediatric Gastroenterology and Nutrition, 63, 592 - 597

• The association of the mitochondrial DNA OriB variant (16184-16193 polycytosine tract) with type 2 diabetes in Europid populations

  Journal article

  Ye Z. et al, (2013), Diabetologia, 56, 1907 - 1913

• Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

  Journal article

  Blakely EL. et al, (2013), Human Mutation, 34, 1260 - 1268

• Mitochondrial dynamics in mitochondrial optic neuropathies

  Journal article

  POULTON J. et al, (2013), Acta Ophthalmologica, 91, 0 - 0

• Differential regulation of HIF-mediated pathways increases mitochondrial metabolism and ATP production in hypoxic osteoclasts

  Journal article

  Morten KJ. et al, (2013), The Journal of Pathology, 229, 755 - 764

• Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

  Journal article

  Pitceathly RDS. et al, (2012), Brain, 135, 3392 - 3403

• Nuclear transfer to prevent maternal transmission of mitochondrial DNA disease: Would be a major advance, but safe alternatives exist for most affected families

  Journal article

  Poulton J. and Oakeshott P., (2012), BMJ (Online), 345

• The association of the mitochondrial DNA 16184-16193 poly-C variant with type 2 diabetes

  Journal article

  Langenberg C. et al, (2012), DIABETOLOGIA, 55, S77 - S78

• Dysregulated mitophagy and mitochondrial transport in severe inherited optic atrophy due to OPA1 mutations

  Conference paper

  Poulton J. et al, (2012), JOURNAL OF MEDICAL GENETICS, 49, S85 - S85

• Mitochondrial DNA depletion syndromes - a 5 year audit of molecular genetic diagnoses

  Conference paper

  Fratter C. et al, (2012), JOURNAL OF MEDICAL GENETICS, 49, S105 - S105

• The c.48G > A variant in the mitochondrial DNA maintenance gene, RRM2B, causes adult-onset autosomal dominant PEO via aberrant splicing

  Conference paper

  Smith C. et al, (2012), JOURNAL OF MEDICAL GENETICS, 49, S88 - S88

• Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease

  Conference paper

  Piceathly RDS. et al, (2012), NEUROMUSCULAR DISORDERS, 22, S23 - S23

• The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation

  Conference paper

  Nesbitt V. et al, (2012), NEUROMUSCULAR DISORDERS, 22, S24 - S24

• Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutations

  Conference paper

  Liao C. et al, (2012), NEUROMUSCULAR DISORDERS, 22, S3 - S3

• Nuclear transfer to prevent maternal transmission of mitochondrial DNA disease

  Journal article

  Poulton J. and Oakeshott P., (2012), BMJ, 345, e6651 - e6651

• Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

  Journal article

  Uusimaa J. et al, (2011), Journal of Medical Genetics, 48, 660 - 668

• Mitochondrial DNA depletion syndrome due to mutations in the MPV17 gene

  Conference paper

  Evans J. et al, (2011), JOURNAL OF MEDICAL GENETICS, 48, S70 - S70

• P55 Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease

  Poster

  Uusimaa J. et al, (2011), Neuromuscular Disorders, 21, S22 - S22

• P80 The MRC Centre for Translational Research in Neuromuscular Disease: Mitochondrial Disease Patient Cohort Study UK

  Conference paper

  Nesbitt V. et al, (2011), Neuromuscular Disorders, 21, S29 - S30

• REVERSIBLE MITOCHONDRIAL LIVER DISEASE WITH TRMU GENE MUTATIONS

  Journal article

  Brown RM. et al, (2011), JOURNAL OF INHERITED METABOLIC DISEASE, 34, S166 - S166

• LIVER TRANSPLANTATION FOR MITOCHONDRIAL CYTOPATHIES IN CHILDREN: A SINGLE CENTER EXPERIENCE

  Journal article

  Vara R. et al, (2010), JOURNAL OF INHERITED METABOLIC DISEASE, 33, S93 - S93

• Transmission of Mitochondrial DNA Diseases and Ways to Prevent Them

  Journal article

  Poulton J. et al, (2010), PLoS Genetics, 6, e1001066 - e1001066

• Loss of autophagy in erythroid cells leads to defective removal of mitochondria and severe anemia in vivo

  Journal article

  Mortensen M. et al, (2010), Proceedings of the National Academy of Sciences, 107, 832 - 837

• Genetic causes of mitochondrial DNA depletion in humans

  Journal article

  Rötig A. and Poulton J., (2009), Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1792, 1103 - 1108

• Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

  Journal article

  Poulton J. et al, (2009), Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1792, 1109 - 1112

• Anticancer DNA intercalators cause p53-dependent mitochondrial DNA nucleoid re-modelling

  Journal article

  Ashley N. and Poulton J., (2009), Oncogene, 28, 3880 - 3891

• Mitochondrial DNA depletion syndromes - molecular diagnosis and future developments

  Conference paper

  Smith C. et al, (2009), JOURNAL OF MEDICAL GENETICS, 46, S81 - S81

• MITOCHONDRIAL FUNCTION DURING ISCHAEMIA-REPERFUSION IN DCD LIVERS

  Journal article

  Roy D. et al, (2009), TRANSPLANT INTERNATIONAL, 22, 39 - 39

• MITOCHONDRIAL PROTECTION BY OXYGENATED PERFUSION AFTER WARM ISCHAEMIA

  Journal article

  Roy D. et al, (2009), TRANSPLANT INTERNATIONAL, 22, 55 - 55

• Transmembrane segments of the dynamin Msp1p uncouple its functions in the control of mitochondrial morphology and genome maintenance

  Journal article

  Diot A. et al, (2009), Journal of Cell Science, 122, 2632 - 2639

• EARLY ONSET NEUROPATHY OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY MIMICKING CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY IN CHILDHOOD

  Journal article

  Munot P. et al, (2009), JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 14, 103 - 104

• 163rd ENMC International Workshop: Nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12–14 December 2008, Naarden, The Netherlands

  Journal article

  Poulton J. and Holt IJ., (2009), Neuromuscular Disorders, 19, 439 - 443

• Mice expressing an error-prone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA

  Journal article

  Bailey LJ. et al, (2009), Nucleic Acids Research, 37, 2327 - 2335

• Preventing transmission of maternally inherited mitochondrial DNA diseases

  Journal article

  Poulton J. et al, (2009), BMJ (Online), 338, 345 - 349

• Mitochondrial DNA is a direct target of anti-cancer anthracycline drugs

  Journal article

  Ashley N. and Poulton J., (2009), Biochemical and Biophysical Research Communications, 378, 450 - 455

• The effect of donor BMI on mitochondrial DNA copy number in isolated human pancreatic islets

  Conference paper

  Walker JN. et al, (2009), XENOTRANSPLANTATION, 16, 346 - 346

• Diagnosis of mitochondrial DNA depletion syndromes

  Journal article

  Rahman S. and Poulton J., (2009), Archives of Disease in Childhood, 94, 3 - 5

• The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study

  Journal article

  Shaboodien G. et al, (2009), BMC Medical Genetics, 10

• Preventing transmission of maternally inherited mitochondrial DNA diseases.

  Journal article

  Poulton J. et al, (2009), BMJ, 338

• The NCG Service for Rare Mitochondrial Disorders of Adults and Children: a clinical and molecular genetics perspective

  Conference paper

  Taylor R. et al, (2008), JOURNAL OF MEDICAL GENETICS, 45, S83 - S83

• Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

  Journal article

  Ashley N. et al, (2008), Human Molecular Genetics, 17, 2496 - 2506

• Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants

  Journal article

  Vergani L. et al, (2007), Brain, 130, 2715 - 2724

• Mutations in the mitochondrial DNA gamma polymerase (POLG-G) may cause Alpers syndrome, mitochondrial DNA depletion and apparent non-syndromic status epilepticus: implications for valproate therapy

  Conference paper

  Ashley N. et al, (2007), JOURNAL OF MEDICAL GENETICS, 44, S25 - S25

• POLG and PE01 gene mutations in autosomal disorders of mitochondrial DNA maintenance

  Conference paper

  Smith C. et al, (2007), JOURNAL OF MEDICAL GENETICS, 44, S87 - S87

• 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 Years

  Journal article

  Das S. et al, (2007), The Journal of Clinical Endocrinology & Metabolism, 92, 3219 - 3223

• Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances

  Journal article

  Ashley N. et al, (2007), Human Molecular Genetics, 16, 1400 - 1411

• Mitochondrial Oxidative Stress Causes Hyperphosphorylation of Tau

  Journal article

  Melov S. et al, (2007), PLoS ONE, 2, e536 - e536

• 2.020 A proteomics and behavioral analysis of the interaction of statins with mitochondrial proteins in a rat model of Parkinson's disease

  Journal article

  Pienaar I. et al, (2007), Parkinsonism & Related Disorders, 13, S91 - S91

• Nuclear transfer to prevent mitochondrial DNA diseases

  Journal article

  Poulton J. et al, (2006), The Lancet, 368, 841 - 841

• Molecular genetic diagnosis of mitochondrial DNA depletion syndrome and Alpers syndrome

  Conference paper

  Fratter C. et al, (2006), JOURNAL OF MEDICAL GENETICS, 43, S80 - S80

• Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases

  Journal article

  Marchington DR. et al, (2006), European Journal of Human Genetics, 14, 816 - 823

• Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis

  Journal article

  Blakely EL. et al, (2006), Pediatric Research, 59, 440 - 444

• Mitochondrial Reactive Oxygen Species in Mice Lacking Superoxide Dismutase 2

  Journal article

  Morten KJ. et al, (2006), Journal of Biological Chemistry, 281, 3354 - 3359

• Mitochondrial

  Chapter

  Golden TR. et al, (2005), Handbook of the Biology of Aging, 124 - 148

• Clinical and Molecular Features of Encephalomyopathy Due to the A3302G Mutation in the Mitochondrial tRNALeu(UUR) Gene

  Journal article

  Hutchison WM. et al, (2005), Archives of Neurology, 62, 1920 - 1920

• Rapid rates of newly synthesized mitochondrial protein degradation are significantly affected by the generation of mitochondrial free radicals

  Journal article

  Basoah A. et al, (2005), FEBS Letters, 579, 6511 - 6517

• New phenotypic diversity associated with the mitochondrial tRNASer(UCN) gene mutation

  Journal article

  Pulkes T. et al, (2005), Neuromuscular Disorders, 15, 364 - 371

• Detection of mitochondrial DNA depletion in living human cells using PicoGreen staining

  Journal article

  Ashley N. et al, (2005), Experimental Cell Research, 303, 432 - 446

• Caveolin-1 may protect trophoblast mitochondria from oxidative stress.

  Journal article

  Rashid-Doubell F. et al, (2005), PLACENTA, 26, A31 - A31

• Childhood neurological presentation of a novel mitochondrial tRNAVal gene mutation

  Journal article

  Blakely EL. et al, (2004), Journal of the Neurological Sciences, 225, 99 - 103

• Risk of developing a mitochondrial DNA deletion disorder

  Journal article

  Chinnery PF. et al, (2004), The Lancet, 364, 592 - 596

• The measurement of reactive oxygen species in purified heart mitochondria from the sod2 nullizygous mouse

  Conference paper

  Morten K. et al, (2004), FREE RADICAL BIOLOGY AND MEDICINE, 37, S28 - S28

• The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading

  Journal article

  Livesey KJ., (2004), Journal of Medical Genetics, 41, 6 - 10

• Spatial dynamics of human mitochondrial nucleoids during mitosis and apoptosis

  Conference paper

  Ashley N. et al, (2004), BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 1657, 74 - 74

• Multiple mitochondrial DNA deletions - 5 year review and new developments in molecular genetic diagnosis

  Conference paper

  Fratter C. et al, (2003), JOURNAL OF MEDICAL GENETICS, 40, S78 - S78

• The presence of a common mitochondrial DNA variant is associated with fasting insulin levels in Europeans in Auckland

  Journal article

  Poulton J. et al, (2002), Diabetic Medicine, 19, 969 - 971

• Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study

  Journal article

  Poulton J., (2002), Human Molecular Genetics, 11, 1581 - 1583

• Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications

  Journal article

  Poulton J. and Marchington DR., (2002), Reproduction, 751 - 755

• Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

  Journal article

  Rovio AT. et al, (2001), Nature Genetics, 29, 261 - 262

• Identification of a novel mitochondrial NADH dehydrogenase I (MTND1) gene mutation in two patients with hypertrophic cardiomyopathy

  Journal article

  Khogali SS. et al, (2001), CIRCULATION, 104, 572 - 572

• Mitochondrial DNA mutations in Leigh syndrome

  Journal article

  Fratter C. et al, (2001), JOURNAL OF MEDICAL GENETICS, 38, S69 - S69

• Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

  Journal article

  Spelbrink JN. et al, (2001), Nature Genetics, 28, 223 - 231

• A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations

  Journal article

  Khogali SS. et al, (2001), The Lancet, 357, 1265 - 1267

• Synthesis of mitochondrial DNA in permeabilised human cultured cells

  Journal article

  Emmerson CF., (2001), Nucleic Acids Research, 29, 1e - 1

• Human mtDNA sublimons resemble rearranged mitochondrial genomes found in pathological states

  Journal article

  Kajander OA., (2000), Human Molecular Genetics, 9, 2821 - 2835

• Detection of multiple mitochondrial DNA deletions in the diagnostic molecular genetics laboratory

  Journal article

  Fratter C. et al, (2000), JOURNAL OF MEDICAL GENETICS, 37, S74 - S74

• The mitochondrial genome in Wolfram syndrome

  Journal article

  BARRETT TG., (2000), Journal of Medical Genetics, 37, 463 - 466

• Association of a common mitochondrial DNA D-loop variant with idiopathic dilated cardiomyopathy in two different populations

  Journal article

  Khogali S. et al, (2000), EUROPEAN HEART JOURNAL, 21, 24 - 24