List of works - Joanna Poulton

28th ENMC international workshop: mitochondrial diseases

scientific article published on 01 July 1995

74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands

scientific article published on 01 August 2000

A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

scientific article published on 01 December 2018

A common mitchondrial DNA variant is associated with thinness in mothers and their 20-yr-old offspring.

scientific article published on 5 July 2005

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

scientific article

A common mitochondrial DNA variant is associated with insulin resistance in adult life ⬇️

scientific article published on January 1, 1998

A national perspective on prenatal testing for mitochondrial disease

scientific article

A new approach to find biomarkers in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) by single-cell Raman micro-spectroscopy

article

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.

scientific article published on 18 July 2015

A nutritional survey in Santal Paraganas, India

scientific article published on 01 December 1987

A prevalent POLG CAG microsatellite length allele in humans and African great apes.

scientific article

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism

scientific article published in Journal of Biological Chemistry

Acute nutritional stress during pregnancy affects placental efficiency, fetal growth and adult glucose homeostasis

scientific article published on 25 November 2017

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

scientific article

Age as a main determinant of renal functional damage in urinary tract infection

scientific article published on 01 May 1984

Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy ⬇️

scientific article published on November 1, 1991

Anita Harding (1952-95): In Memoriam

scientific article

Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

scientific article (publication date: June 1994)

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

article

Centrosomes are multifunctional regulators of genome stability

scientific article published on 11 December 2015

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.

scientific article published in October 2004

Childhood-onset Leber hereditary optic neuropathy

scientific article

Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

scientific article

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

scientific article published on 17 August 2016

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

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

scientific article

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

scientific article

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

scientific article published on 11 September 2009

Congenital myotonic dystrophy and mtDNA ⬇️

scientific article published on March 1, 1992

Correction: Is Placental Mitochondrial Function a Regulator that Matches Fetal and Placental Growth to Maternal Nutrient Intake in the Mouse?

scientific article published on 3 February 2017

Cross-cultural medicine: a teaching aid.

scientific article published in January 1985

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

scientific article

De novo mutation associated with mitochondrial epilepsy syndrome with fever sensitivity

scientific article published on 02 August 2018

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

scientific article published on 03 May 2007

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

scientific article published on October 1994

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

scientific article published on 13 October 2009

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

scientific article published on 29 May 2007

Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non-invasive diagnosis of mitochondrial myopathy

scientific article published on 01 January 1991

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

scientific article

Difficulties and possible solutions in the genetic management of mtDNA disease in the preimplantation embryo

scientific article published on 01 January 2007

Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?

scientific article published on 01 April 1996

Does a common mitochondrial DNA polymorphism underlie susceptibility to diabetes and the thrifty genotype?

scientific article published on 01 October 1998

Duplications of mitochondrial DNA in Kearns-Sayre syndrome

scientific article published on 01 January 1995

Duplications of mitochondrial DNA: implications for pathogenesis

scientific article published on January 1, 1992

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

scientific article published on 14 December 2016

Erratum to: Genetic Counselling for Maternally Inherited Mitochondrial Disorders.

scientific article

Evidence from Human Oocytes for a Genetic Bottleneck in an mtDNA Disease ⬇️

scientific article published on September 1, 1998

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

scientific article

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

scientific article published in January 1993

Functional mtDNA replication defect in a fibroblast line from a patient with mtDNA depletion

scientific article published on 01 January 1996

Genetic Counselling for Maternally Inherited Mitochondrial Disorders.

scientific article

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

scientific article

HIV-1 therapy and fetal mitochondrial dysfunction

scientific article published on 01 December 1999

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

scientific article published on 01 November 2000

In Vitro and In Vivo Detection of Mitophagy in Human Cells, C. Elegans, and Mice

scientific article published on 22 November 2017

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

scientific article published on 30 July 2016

Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta.

scientific article published on 12 November 2009

Insights into pancreatic β cell energy metabolism using rodent β cell models

scientific article published on 01 January 2017

Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA ⬇️

scientific article published on September 1, 1995

Is Placental Mitochondrial Function a Regulator that Matches Fetal and Placental Growth to Maternal Nutrient Intake in the Mouse?

scientific article

Isoenzyme-specific regulation of genes involved in energy metabolism by hypoxia: similarities with the regulation of erythropoietin

scientific article published on February 1996

Large-scale genetic analysis reveals mammalian mtDNA heteroplasmy dynamics and variance increase through lifetimes and generations.

scientific article published on 27 June 2018

Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation

scientific article published on October 1996

Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation.

scientific article published in January 1995

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

article

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

scientific article published on 13 January 2016

Metabolic rescue in pluripotent cells from patients with mtDNA disease

scientific article published on 15 July 2015

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

scientific article published on 31 October 2020

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

scientific article published on 25 February 2009

Mitochondrial DNA and Genetic Disease ⬇️

scientific article published on 01 September 1993

Mitochondrial DNA and genetic disease

scientific article published on 01 August 1988

Mitochondrial DNA disease and developmental implications for reproductive strategies

scientific article

Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy.

scientific article

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

scientific article published in January 1999

Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome

scientific article published on 01 July 1995

Mitochondrial DNA: does more lead to less?

scientific article published on 01 December 1994

Mitochondrial content is central to nuclear gene expression: Profound implications for human health.

scientific article published on 3 January 2016

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

scientific article published on 14 May 2014

Mitochondrial gene mutations

scientific article published on 01 January 1998

Mitophagy plays a central role in mitochondrial ageing

scientific article

Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children

scientific article

Modulating mitophagy in mitochondrial disease.

scientific article published on 16 June 2017

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

scientific article

MtDNA segregation in heteroplasmic tissues is common in vivo and modulated by haplotype differences and developmental stage

scientific article

Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype

scientific article published on 01 September 1995

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

article

New genetics of mitochondrial DNA diseases.

scientific article published on June 1996

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

scientific article published in May 2005

No evidence for paternal mtDNA transmission to offspring or extra-embryonic tissues after ICSI

scientific article (publication date: November 2002)

Non-invasive diagnosis of mitochondrial myopathy

scientific article published on 01 April 1989

Noninvasive diagnosis of the MELAS syndrome from blood DNA

scientific article published on 01 July 1993

Nuclear transfer to prevent maternal transmission of mitochondrial DNA disease

scientific article published on 03 October 2012

Nuclear transfer to prevent mitochondrial DNA diseases

scientific article published on 01 September 2006

OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy

scientific article published in 2022

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

scientific article published on 29 October 2014

Pancreatic pathology in non-insulin dependent diabetes (NIDDM).

scientific article published on August 1995

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease

scientific article

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

scientific article published on 23 June 2016

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

scientific article published in August 2019

Polyneuropathy in the mtDNA base pain 3243 point mutation

scientific article published on 01 May 1996

Preventing transmission of maternally inherited mitochondrial DNA diseases.

scientific article published on 30 January 2009

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

scientific article published on August 1996

Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. ⬇️

scientific article published on 28 February 2013

Reply to Thyagarajan et al

Resistance of Dynamin-related Protein 1 Oligomers to Disassembly Impairs Mitophagy, Resulting in Myocardial Inflammation and Heart Failure ⬇️

scientific article published on 14 September 2015

Resistance of dynamin-related protein 1 oligomers to disassembly impairs mitophagy, resulting in myocardial inflammation and heart failure

scientific article published on December 2016

Retrospective natural history of thymidine kinase 2 deficiency.

scientific article

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

scientific article

Risk of developing a mitochondrial DNA deletion disorder

scientific article published in The Lancet

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy

scientific article published on 05 April 2019

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

scientific article

Serum thiocyanate levels as indicator of passive smoking in children

scientific article published on 01 December 1984

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

scientific article published on 5 March 2015

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

scientific article published on 30 August 2018

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

article

Stochastic modelling, Bayesian inference, and new in vivo measurements elucidate the debated mtDNA bottleneck mechanism. ⬇️

scientific article

Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution.

scientific article

The Mitochondrion-lysosome Axis in Adaptive and Innate Immunity: Effect of Lupus Regulator Peptide P140 on Mitochondria Autophagy and NETosis

scientific article published on 26 September 2018

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

scientific article published on 24 May 2013

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

scientific article published in May 2010

The dangers of extended PCR in the clinic

scientific article published on 01 September 1999

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

scientific article published on 22 April 2016

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

scientific article

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

scientific article published in November 2002

Transmission of mitochondrial DNA diseases and ways to prevent them.

scientific article

Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: developing the first mouse model of mitochondrial DNA disease.

scientific article published on August 1999

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

scientific article

UK centres are not following the Royal College of Pathologists' recommendations for storage of Guthrie cards: a national policy is needed ⬇️

scientific article published on March 1, 1998

Unexplained gastrointestinal symptoms: think mitochondrial disease

scientific article published on 13 June 2013

Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.

scientific article published on 21 August 2017

Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation

scientific article published on 19 September 2018

Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome

scientific article published on 01 January 1995

List of works by Joanna Poulton

28th ENMC international workshop: mitochondrial diseases

74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands

A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

A common mitchondrial DNA variant is associated with thinness in mothers and their 20-yr-old offspring.

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

A common mitochondrial DNA variant is associated with insulin resistance in adult life ⬇️

A national perspective on prenatal testing for mitochondrial disease

A new approach to find biomarkers in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) by single-cell Raman micro-spectroscopy

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.

A nutritional survey in Santal Paraganas, India

A prevalent POLG CAG microsatellite length allele in humans and African great apes.

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism

Acute nutritional stress during pregnancy affects placental efficiency, fetal growth and adult glucose homeostasis

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

Age as a main determinant of renal functional damage in urinary tract infection

Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy ⬇️

Anita Harding (1952-95): In Memoriam

Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Centrosomes are multifunctional regulators of genome stability

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.

Childhood-onset Leber hereditary optic neuropathy

Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

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

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

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

Congenital myotonic dystrophy and mtDNA ⬇️

Correction: Is Placental Mitochondrial Function a Regulator that Matches Fetal and Placental Growth to Maternal Nutrient Intake in the Mouse?

Cross-cultural medicine: a teaching aid.

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

De novo mutation associated with mitochondrial epilepsy syndrome with fever sensitivity

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

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

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

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

Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non-invasive diagnosis of mitochondrial myopathy

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

Difficulties and possible solutions in the genetic management of mtDNA disease in the preimplantation embryo

Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?

Does a common mitochondrial DNA polymorphism underlie susceptibility to diabetes and the thrifty genotype?

Duplications of mitochondrial DNA in Kearns-Sayre syndrome

Duplications of mitochondrial DNA: implications for pathogenesis

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

Erratum to: Genetic Counselling for Maternally Inherited Mitochondrial Disorders.

Evidence from Human Oocytes for a Genetic Bottleneck in an mtDNA Disease ⬇️

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

Functional mtDNA replication defect in a fibroblast line from a patient with mtDNA depletion

Genetic Counselling for Maternally Inherited Mitochondrial Disorders.

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

HIV-1 therapy and fetal mitochondrial dysfunction

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

In Vitro and In Vivo Detection of Mitophagy in Human Cells, C. Elegans, and Mice

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

Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta.

Insights into pancreatic β cell energy metabolism using rodent β cell models

Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA ⬇️

Is Placental Mitochondrial Function a Regulator that Matches Fetal and Placental Growth to Maternal Nutrient Intake in the Mouse?

Isoenzyme-specific regulation of genes involved in energy metabolism by hypoxia: similarities with the regulation of erythropoietin

Large-scale genetic analysis reveals mammalian mtDNA heteroplasmy dynamics and variance increase through lifetimes and generations.

Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation

Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation.

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

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

Metabolic rescue in pluripotent cells from patients with mtDNA disease

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

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

Mitochondrial DNA and Genetic Disease ⬇️

Mitochondrial DNA and genetic disease

Mitochondrial DNA disease and developmental implications for reproductive strategies

Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy.

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome

Mitochondrial DNA: does more lead to less?

Mitochondrial content is central to nuclear gene expression: Profound implications for human health.

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

Mitochondrial gene mutations