User profiles for "author:Joanna Poulton"

Joanna Poulton

Professor of Mitochondrial Genetics, University of Oxford, UK
Verified email at wrh.ox.ac.uk
Cited by 28778

Genetic counselling for maternally inherited mitochondrial disorders

J Poulton, J Finsterer, P Yu-Wai-Man - Molecular diagnosis & therapy, 2017 - Springer
The aim of this review was to provide an evidence-based approach to frequently asked
questions relating to the risk of transmitting a maternally inherited mitochondrial disorder …

[HTML][HTML] Mitophagy plays a central role in mitochondrial ageing

A Diot, K Morten, J Poulton - Mammalian Genome, 2016 - Springer
The mechanisms underlying ageing have been discussed for decades, and advances in
molecular and cell biology of the last three decades have accelerated research in this area …

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

JN Spelbrink, FY Li, V Tiranti, K Nikali, QP Yuan… - Nature …, 2001 - nature.com
The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and
organization remain largely unknown. We report here a novel mitochondrial protein …

[HTML][HTML] Genetic causes of mitochondrial DNA depletion in humans

A Rötig, J Poulton - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2009 - Elsevier
Mitochondrial DNA (mtDNA) depletion is characterized by a profound reduction of mtDNA
copy number. The maintenance of mtDNA copy number requires several nuclear-encoded …

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

DA Mackey, RJ Oostra, T Rosenberg… - American journal of …, 1996 - ncbi.nlm.nih.gov
Although it has been recognized for more than a cen-tury that the risk of LHON shows strict
maternal trans-mission (Leber 1871), it has been much more recently that this inheritance …

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

TB Haack, K Danhauser, B Haberberger, J Hoser… - Nature …, 2010 - nature.com
An isolated defect of respiratory chain complex I activity is a frequent biochemical
abnormality in mitochondrial disorders. Despite intensive investigation in recent years, in …

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

H Tyynismaa, H Sembongi… - Human molecular …, 2004 - academic.oup.com
Mechanisms of mitochondrial DNA (mtDNA) maintenance have recently gained wide
interest owing to their role in inherited diseases as well as in aging. Twinkle is a new …

Risk of developing a mitochondrial DNA deletion disorder

PF Chinnery, S DiMauro, S Shanske, EA Schon… - The Lancet, 2004 - thelancet.com
Summary Background Pathogenic mitochondrial DNA (mtDNA) mutations are found in at
least one in 8000 individuals. No effective treatment for mtDNA disorders is available …

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

J Poulton, J Luan, V Macaulay… - Human molecular …, 2002 - academic.oup.com
Variants in mitochondrial DNA (mtDNA) could be associated with type 2 diabetes because
ATP plays a critical role in the production and release of insulin. Diabetes can be …

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

RK Naviaux, WL Nyhan, BA Barshop… - Annals of Neurology …, 1999 - Wiley Online Library
Deficiency of mitochondrial DNA polymerase γ activity was found in a patient with mtDNA
depletion and Alpers' syndrome. Metabolic evaluation revealed fasting hypoglycemia …