Publications by Dr Joanna Elson - ePrints

Browsing publications by Dr Joanna Elson.

Newcastle Authors	Title	Year
Dr Joanna Elson Dr Jannetta Steyn	Mitochondrial DNA mutation pathogenicity score and neurocognitive performance in persons with HIV	2024
Dr Joanna Elson Dr Ilse Pienaar	A Novel Mitochondria-Targeting Iron Chelator Neuroprotects Multimodally via HIF-1 Modulation Against a Mitochondrial Toxin in a Dopaminergic Cell Model of Parkinson’s Disease	2023
Dr Joanna Elson	Our current understanding of the toxicity of altered mito-ribosomal fidelity during mitochondrial protein synthesis: What can it tell us about human disease?	2023
Dr Kamilla Mahkamova Dr Joanna Elson ISHA Karnik Rachel Telfer-Sutherland Seb Aspinall et al.	Impact of transforming growth factor beta 1 on normal and thyroid cancer side population cells	2022
Dr Jannetta Steyn Dr Ilse Pienaar Dr Joanna Elson	Mitochondrial DNA population variation is not associated with Alzheimer's in the Japanese population: A consistent finding across global populations	2022
Dr Joanna Elson	Mitochondrial DNA variation in Parkinson’s disease: Analysis of “out-of-place” population variants as a risk factor	2022
ISHA Karnik Rachel Telfer-Sutherland Dr Joanna Elson Sebastian Aspinall Dr Annette Meeson et al.	TGF-β, to target or not to target; to prevent thyroid cancer progression?	2022
Hannah O'Keefe Dr Joanna Elson	A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations	2021
Dr Joanna Elson	Heterologous Inferential Analysis (HIA) and Other Emerging Concepts: In Understanding Mitochondrial Variation In Pathogenesis: There is no More Low-Hanging Fruit	2021
Dr Ilse Pienaar Dr Joanna Elson	Investigation of the Correlation Between Mildly Deleterious mtDNA Variations and the Clinical Progression of Multiple Sclerosis	2021
Dr Joanna Elson	Single-Cell Approaches for Studying the Role of Mitochondrial DNA in Neurodegenerative Disease	2021
Dr Joanna Elson Dr Ilse Pienaar	Design and evaluation of bi-functional iron chelators for protection of dopaminergic neurons from toxicants	2020
Dr Joanna Elson	DREADD Activation of Pedunculopontine Cholinergic Neurons Reverses Motor Deficits and Restores Striatal Dopamine Signaling in Parkinsonian Rats	2020
Dr Joanna Elson	Evolutionary dissection of mtDNA hgH - a susceptibility factor for hypertrophic cardiomyopathy	2020
Dr Joanna Elson Professor Robert Taylor	Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed–Sternberg cells	2020
Dr Joanna Elson Dr Meera Soundararajan Dr Ilse Pienaar	Novel 1-hydroxypyridin-2-one metal chelators prevent and rescue ubiquitin proteasomal-related neuronal injury in an in vitro model of Parkinson’s disease	2020
Dr Cara Tomas-Smith Dr Joanna Elson Emerita Professor Julia Newton Professor Mark Walker	Substrate utilisation of cultured skeletal muscle cells in patients with CFS	2020
Dr Cara Tomas Dr Joanna Elson Vicki Strassheim Emerita Professor Julia Newton Professor Mark Walker et al.	The effect of myalgic encephalomyelitis/ chronic fatigue syndrome (ME/CFS) severity on cellular bioenergetic function	2020
Hannah O'Keefe Dr Rachel Queen Dr Phillip Lord Dr Joanna Elson	What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?	2020
Dr Cara Tomas Dr Joanna Elson	A new approach to find biomarkers in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) by single-cell Raman micro-spectroscopy	2019
Dr Joanna Elson	Altered motor, anxiety-related and attentional task performance at baseline associate with multiple gene copies of the vesicular acetylcholine transporter and related protein overexpression in ChAT::Cre+ rats	2019
Dr Cara Tomas Dr Joanna Elson Emerita Professor Julia Newton	Assessing cellular energy dysfunction in CFS/ME using a commercially available laboratory test	2019
Dr Joanna Elson	Implementing a new variant load model to investigate the role of mtDNA in oxidative stress and inflammation in a bi-ethnic cohort: the SABPA study	2019
Dr Cara Tomas Dr Audrey Brown Emerita Professor Julia Newton Dr Joanna Elson	Mitochondrial complex activity in permeabilised cells of chronic fatigue syndrome patients using two cell types	2019
Dr Cara Tomas Dr Ilse Pienaar Vicki Strassheim Professor Fai Ng Emerita Professor Julia Newton et al.	MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants	2019
Dr Joanna Elson	New mtDNA association model, MutPred variant load, suggests individuals with multiple mildly deleterious mtDNA variants are more likely to suffer from atherosclerosis	2019
Dr Joanna Elson Professor Francois van der Westhuizen	Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease	2019
Dr Cara Tomas Dr Joanna Elson	The role of mitochondria in ME/CFS: a perspective	2019
Rebecca Brennan Dr Ilse Pienaar Professor Francois van der Westhuizen Dr Joanna Elson	The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects	2019
Hannah O'Keefe Dr Rachel Queen Dr Phillip Lord Dr Joanna Elson	Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations	2018
Dr Joanna Elson Dr Ilse Pienaar	Temporal-Spatial Profiling of Pedunculopontine Galanin-Cholinergic Neurons in the Lactacystin Rat Model of Parkinson’s Disease	2018
Dr Joanna Elson	The aetiology of cardiovascular disease: A role for mitochondrial DNA?	2018
Dr Cara Tomas Dr Audrey Brown Vicki Strassheim Dr Joanna Elson Emerita Professor Julia Newton et al.	Cellular bioenergetics is impaired in patients with chronic fatigue syndrome	2017
Charlotte Hemingbrough Professor Fai Ng Professor Robert Taylor Emerita Professor Julia Newton Dr Joanna Elson et al.	Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome	2017
Dr Ilse Pienaar Dr Joanna Elson	Mildly deleterious mitochondrial DNA variants are less frequent in healthy older individuals, but not more prevalent in Alzheimer’s patients	2017
Alex Bury Dr Angela Pyle Dr Joanna Elson Professor Laura Greaves Dr Christopher Morris et al.	Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson disease	2017
Dr Rachel Queen Dr Jannetta Steyn Dr Phillip Lord Dr Joanna Elson	Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications	2017
Dr Ilse Pienaar Dr Joanna Elson	MutPred mutational load analysis shows mildly deleterious mitochondrial DNA variants are not more prevalent in Alzheimer's patients, but may be under-represented in healthy older individuals	2017
Dr Joanna Elson Professor Francois van der Westhuizen	Using MutPred derived mtDNA load scores to evaluate mtDNA variation in hypertension and diabetes in a two-population cohort: The SABPA study	2017
Dr Joanna Elson	Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease?	2016
Dr Joanna Elson	Pedunculopontine cell loss and protein aggregation direct microglia activation in parkinsonian rats	2016
Dr Ilse Pienaar Dr Joanna Elson Alex Bury	An animal model mimicking pedunculopontine nucleus cholinergic degeneration in Parkinson's disease	2015
Dr Ilse Pienaar Dr Joanna Elson Professor Raj Kalaria	Deep-brain stimulation associates with improved microvascular integrity in the subthalamic nucleus in Parkinson's disease	2015
Dr Joanna Elson Dr Paul Smith	Heterologous Inferential Analysis (HIA) as a Method to Understand the Role of Mitochondrial rRNA Mutations in Pathogenesis	2015
Dr Joanna Elson	Mitochondrial DNA as a Risk Factor for False Positives in Case-Control Association Studies	2015
Professor Grainne Gorman Dr Joanna Elson Jane Newman Dr Brendan Payne Professor Bobby McFarland et al.	Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease	2015
Dr Ilse Pienaar Dr Sasha Gartside Sabine Gretenkord Dr Joanna Elson	Pharmacogenetic stimulation of cholinergic pedunculopontine neurons reverses motor deficits in a rat model of Parkinson's disease	2015
Dr Joanna Elson Dr Paul Smith Professor Laura Greaves Professor Robert Lightowlers Professor Zofia Chrzanowska-Lightowlers et al.	The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease	2015
Professor Francois van der Westhuizen Professor Grainne Gorman Dr Brendan Payne Dr Joanna Elson	Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop	2015
Professor Laura Greaves Marco Nooteboom Dr Joanna Elson Dr Helen Tuppen Geoffrey Taylor et al.	Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing	2014
Dr Joanna Elson Mark Cadogan Professor Roger Whittaker Professor Mike Trenell Professor Rita Horvath et al.	Initial development and validation of a mitochondrial disease quality of life scale	2013
Dr Ilse Pienaar Dr Joanna Elson Dr Claudia Racca Dr Glyn Nelson Emeritus Professor Doug Turnbull et al.	Mitochondrial Abnormality Associates with Type-Specific Neuronal Loss and Cell Morphology Changes in the Pedunculopontine Nucleus in Parkinson Disease	2013
Dr Paul Smith Dr Joanna Elson Professor Laura Greaves Professor Robert Lightowlers Professor Zofia Chrzanowska-Lightowlers et al.	The role of the mitochondrial ribosome in human disease: Searching for mutations in 12S mitochondrial rRNA with high disruptive potential	2013
Dr John Yarham Professor Bobby McFarland Professor Robert Taylor Dr Joanna Elson	A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations	2012
Dr John Yarham Dr Joanna Elson Professor Robert Taylor Professor Bobby McFarland	A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations	2012
Dr Carole Proctor Dr Ilse Pienaar Dr Joanna Elson Emeritus Professor Thomas Kirkwood	Aggregation, impaired degradation and immunization targeting of amyloid-beta dimers in Alzheimer's disease: A stochastic modelling approach	2012
Professor Robert Taylor Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Francois van der Westhuizen	Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease	2012
Professor Laura Greaves Dr Joanna Elson Dr John Grady Geoffrey Taylor Professor Robert Taylor et al.	Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations	2012
Dr Joanna Elson	Raising Doubts about the Pathogenicity of Mitochondrial DNA Mutation m.3308T>C in Left Ventricular Hypertraveculation/Noncompaction	2012
Dr Amy Reeve Tae-Kyung Park Dr Evelyn Jaros Graham Campbell Dr Nichola Lax et al.	Relationship Between Mitochondria and α-Synuclein: A Study of Single Substantia Nigra Neurons	2012
Dr Joanna Elson Dr John Yarham Professor Francois van der Westhuizen Dr Robert Pitceathly Professor Robert Taylor et al.	Towards a mtDNA locus-specific mutation database using the LOVD platform	2012
Professor Gavin Hudson Dr Ian Wilson Dr Brendan Payne Dr Joanna Elson Professor David Samuels et al.	Unique mitochondrial DNA in highly inbred feral cattle	2012
John Yarham Dr Charlotte Alston Professor Robert Taylor Dr Joanna Elson Professor Bobby McFarland et al.	A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations	2011
Dr Joanna Elson	Call for participation in the neurogenetics consortium within the Human Variome Project	2011
Professor Grainne Gorman Dr Joanna Elson Dr Thomas Ploetz Emeritus Professor Doug Turnbull Professor Mike Trenell et al.	Habitual Physical Activity in Mitochondrial Disease	2011
Dr Lyndsey Butterworth Dr Joanna Elson Dr Helen Tuppen Dr Lisa Ferguson Gareth Greggains et al.	Mitochondrial DNA disease: new options for prevention	2011
Professor Bobby McFarland Dr Joanna Elson	Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression	2011
Dr John Yarham Dr Joanna Elson Dr Charlotte Alston Emeritus Professor Doug Turnbull Professor Bobby McFarland et al.	Assigning pathogenicity to mitochondrial tRNA gene mutations	2010
Dr Joanna Elson Mark Cadogan Professor Bobby McFarland Dr Roger Whittaker Professor Rita Horvath et al.	Development and validation of a mitochondrial disease-specific quality of life scale (Mito-QOL)	2010
Professor Grainne Gorman Emeritus Professor Doug Turnbull Professor Rita Horvath Professor Roger Whittaker Angela Phillips et al.	Development and validation of a quality of life scale for mitochondrial disease (MITO-QOL)	2010
Professor Grainne Gorman Dr Joanna Elson Professor Mike Trenell Emeritus Professor Doug Turnbull	Habitual physical activity in mitochondrial disease - do we need to intervene?	2010
Professor Grainne Gorman Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Mike Trenell	Habitual physical activity in mitochondrial disease - do we need to intervene?	2010
Dr John Yarham Dr Joanna Elson Professor Bobby McFarland Professor Robert Taylor	Mitochondrial tRNA mutations and disease	2010
Dr Joanna Elson Professor Grainne Gorman Professor Roger Whittaker	Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions	2010
Dr Joanna Elson Dr Helen Swalwell Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull et al.	Pathogenic mitochondrial tRNA mutations - which mutations are inherited and why?	2009
Dr Amy Reeve Geoffrey Taylor Dr Joanna Elson Professor Robert Taylor Dr Christopher Morris et al.	The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons	2009
Professor Roger Whittaker Dr John Blackwood Dr Charlotte Alston Dr Joanna Elson Professor Bobby McFarland et al.	Urine Heteroplasmy is the Best Predictor of Clinical Outcome in the m.3243A>G mtDNA Mutation	2009
Professor Gavin Hudson Catherine Mowbray Dr Joanna Elson Professor Patrick Chinnery	Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?	2008
Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility.	2008
Dr Matthias Elstner Dr Joanna Elson	Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy	2008
Dr Joanna Elson	Molecular clock debate: Time dependency of molecular rate estimates for mtDNA: This is not the time for wishful thinking	2008
Dr Amy Reeve Dr Joanna Elson Dr Christopher Morris Professor Robert Lightowlers Emeritus Professor Doug Turnbull et al.	Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons	2008
Dr Jim Stewart Dr Joanna Elson	Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease	2008
Dr Joanna Elson	Strong purifying selection in transmission of mammalian mitochondrial DNA	2008
Dr Helen Swalwell Professor Bobby McFarland Dr Joanna Elson Dr Langping He Emerita Professor Katherine Bushby et al.	A maternally inherited mitochondrial tRNA mutation masquerading as limb girdle muscular dystrophy: Insights into the transmission of mtDNA mutations	2007
Dr Joanna Elson Professor Patrick Chinnery	Associating mitochondrial DNA variation with complex traits	2007
Professor Gavin Hudson Catherine Mowbray Dr Angela Pyle Dr Joanna Elson Philip Griffiths et al.	Clinical expression of Leber heriditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background	2007
Professor Patrick Chinnery Dr Catherine Mowbray Dr Hannah Elliott Dr Joanna Elson Professor Pamela Shaw et al.	Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis	2007
Professor Patrick Chinnery Dr Catherine Mowbray Dr Sheila Patel Dr Joanna Elson Anne Hattersley et al.	Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls	2007
Dr Joanna Elson Emeritus Professor Doug Turnbull	Relative rates of evolution in the coding and control regions of African mtDNAs	2007
Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Robert Taylor	Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach	2007
Dr Andrew Schaefer Dr Joanna Elson Emeritus Professor Doug Turnbull Professor Bobby McFarland	A scale to monitor progression and treatment of mitochondrial disease in children	2006
Dr Joanna Elson Dr Christopher Morris Professor Jim Edwardson Emeritus Professor Doug Turnbull	Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?	2006
Dr Andrew Schaefer Dr Joanna Elson Professor Bobby McFarland Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	Mitochondrial disease in adults: A scale to monitor progression and treatment	2006
Dr Joanna Elson Professor Robert Lightowlers	Mitochondrial DNA clonality in the dock: can surveillance swing the case?	2006
Dr Anna Mitchell Dr Joanna Elson Professor Robert Taylor Emeritus Professor Doug Turnbull	Sequence variation in mitochondrial complex I genes: Mutation or polymorphism?	2006
Dr Joanna Elson Professor Patrick Chinnery Emeritus Professor Doug Turnbull	mtDNA mutations and common neurodegenerative disorders	2005
Professor Robert Taylor Dr Joanna Elson Professor Bobby McFarland Dr Anna Mitchell Emeritus Professor Doug Turnbull et al.	Sequence variation in the mitochondrial genome: what is the pathogenic mutation?	2005
Dr Joanna Elson Emeritus Professor Doug Turnbull	African haplogroup L mtDNA sequences show violations of clock-like evolution	2004
Dr Joanna Elson Professor Bobby McFarland Professor Robert Taylor Emeritus Professor Doug Turnbull	Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough	2004
Professor Bobby McFarland Dr Joanna Elson Professor Robert Taylor Emeritus Professor Doug Turnbull	Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough	2004
Dr Joanna Elson Emeritus Professor Doug Turnbull	Comparative Genomics and the Evolution of Human Mitochondrial DNA: Assessing the Effects of Selection	2004
Professor Bobby McFarland Professor Robert Taylor Dr Joanna Elson Professor Robert Lightowlers Emeritus Professor Doug Turnbull et al.	Proving pathogenicity: When evolution is not enough	2004
Professor Patrick Chinnery Dr David Samuels Dr Joanna Elson Emeritus Professor Doug Turnbull	Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: Is there a common mechanism?	2002
Dr Joanna Elson Dr David Samuels Dr Margaret Johnson Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al.	The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy	2002
Dr Joanna Elson Dr Richard Andrews Professor Patrick Chinnery Professor Robert Lightowlers Emeritus Professor Doug Turnbull et al.	Analysis of European mtDNAs for recombination	2001
Dr Joanna Elson Professor David Samuels Emeritus Professor Doug Turnbull Professor Patrick Chinnery	Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age	2001