Lista de obras - Joanna Poulton - Dominio Público Uruguay

28th ENMC international workshop: mitochondrial diseases

artículo científico publicado el 1 de julio de 1995

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2001

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

artículo científico publicado el 1 de enero de 1998

A national perspective on prenatal testing for mitochondrial disease

artículo científico publicado en 2014

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.

artículo científico publicado en 2015

A nutritional survey in Santal Paraganas, India

artículo científico publicado en 1987

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

artículo científico publicado en 2004

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

artículo científico publicado en 1993

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 1984

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

artículo científico publicado el 1 de noviembre de 1991

Anita Harding (1952-95): In Memoriam

artículo científico publicado en 1996

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

Childhood-onset Leber hereditary optic neuropathy

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

artículo científico publicado en 2017

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 ⬇️

artículo científico publicado el 1 de marzo de 1992

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

artículo científico publicado en 2017

Cross-cultural medicine: a teaching aid.

artículo científico publicado en 1985

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado el 1 de enero de 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 1993

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

artículo científico publicado en 1996

Genetic Counselling for Maternally Inherited Mitochondrial Disorders.

artículo científico publicado en 2017

HIV-1 therapy and fetal mitochondrial dysfunction

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado el 1 de septiembre de 1995

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

artículo científico publicado en 2015

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

artículo científico publicado en 1996

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

artículo científico publicado en 2018

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

artículo científico publicado en 1996

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

artículo científico publicado en 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

artículo científico publicado en 2016

Metabolic rescue in pluripotent cells from patients with mtDNA disease

artículo científico publicado en 2015

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

artículo científico publicado en 2020

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

artículo científico publicado en 2009

Mitochondrial DNA and Genetic Disease ⬇️

artículo científico publicado el 1 de septiembre de 1993

Mitochondrial DNA and genetic disease

artículo científico publicado en 1988

Mitochondrial DNA disease and developmental implications for reproductive strategies

artículo científico publicado en 2015

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

artículo científico publicado en 1995

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Mitochondrial gene mutations

artículo científico publicado en 1998

Mitophagy plays a central role in mitochondrial ageing

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Modulating mitophagy in mitochondrial disease.

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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.

artículo científico publicado en 1996

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

artículo científico publicado en 2005

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

artículo científico publicado en 2002

Non-invasive diagnosis of mitochondrial myopathy

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 2014

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

artículo científico publicado en 1995

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Polyneuropathy in the mtDNA base pain 3243 point mutation

artículo científico publicado en 1996

Preventing transmission of maternally inherited mitochondrial DNA diseases.

artículo científico publicado en 2009

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

artículo científico publicado en 1996

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

artículo científico publicado en 2013

Reply to Thyagarajan et al

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Retrospective natural history of thymidine kinase 2 deficiency.

artículo científico publicado en 2018

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

artículo científico publicado en 2011

Risk of developing a mitochondrial DNA deletion disorder

artículo científico publicado en 2004

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

artículo científico publicado en 2019

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

artículo científico publicado en 2002

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.

artículo científico publicado en 2015

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

artículo científico publicado en 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. ⬇️

artículo científico publicado en 2015

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

artículo científico publicado en 1989

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2002

Transmission of mitochondrial DNA diseases and ways to prevent them.

artículo científico publicado en 2010

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

artículo científico publicado en 1999

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

artículo científico publicado en 2004

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

artículo científico publicado el 1 de marzo de 1998

Unexplained gastrointestinal symptoms: think mitochondrial disease

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 1995

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

artículo científico publicado en 2016

Lista de obras de 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.

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.

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

Mitophagy plays a central role in mitochondrial ageing

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