User profiles for "author:Doug Turnbull"

Doug Turnbull

Professor of Neurology, Newcastle University
Verified email at newcastle.ac.uk
Cited by 23408

Mitochondrial DNA mutations in human disease

RW Taylor, DM Turnbull - Nature Reviews Genetics, 2005 - nature.com
The human mitochondrial genome is extremely small compared with the nuclear genome,
and mitochondrial genetics presents unique clinical and experimental challenges. Despite …

[HTML][HTML] Ageing and Parkinson's disease: why is advancing age the biggest risk factor?

A Reeve, E Simcox, D Turnbull - Ageing research reviews, 2014 - Elsevier
As the second most common age related neurodegenerative disease after Alzheimer's
disease, the health, social and economic impact resulting from Parkinson's disease will …

The genetics and pathology of mitochondrial disease

CL Alston, MC Rocha, NZ Lax… - The Journal of …, 2017 - Wiley Online Library
Mitochondria are double‐membrane‐bound organelles that are present in all nucleated
eukaryotic cells and are responsible for the production of cellular energy in the form of ATP …

What causes mitochondrial DNA deletions in human cells?

KJ Krishnan, AK Reeve, DC Samuels, PF Chinnery… - Nature …, 2008 - nature.com
Mitochondrial DNA (mtDNA) deletions are a primary cause of mitochondrial disease and are
likely to have a central role in the aging of postmitotic tissues. Understanding the mechanism …

[PDF][PDF] Mitochondrial diseases: hope for the future

OM Russell, GS Gorman, RN Lightowlers, DM Turnbull - Cell, 2020 - cell.com
Mitochondrial diseases are clinically heterogeneous disorders caused by a wide spectrum
of mutations in genes encoded by either the nuclear or the mitochondrial genome …

Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis

GR Campbell, I Ziabreva, AK Reeve… - Annals of …, 2011 - Wiley Online Library
Objective Cerebral atrophy is a correlate of clinical progression in multiple sclerosis (MS).
Mitochondria are now established to play a part in the pathogenesis of MS. Uniquely …

Mitochondrial DNA and disease

LC Greaves, AK Reeve, RW Taylor… - The Journal of …, 2012 - Wiley Online Library
Mitochondrial DNA (mtDNA) defects are a relatively common cause of inherited disease and
have been implicated in both ageing and cancer. MtDNA encodes essential subunits of the …

Mutations causing mitochondrial disease: What is new and what challenges remain?

RN Lightowlers, RW Taylor, DM Turnbull - Science, 2015 - science.org
Mitochondrial diseases are among the most common and most complex of all inherited
genetic diseases. The involvement of both the mitochondrial and nuclear genome presents …

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

PF Chinnery, DR Thorburn, DC Samuels, SL White… - Trends in Genetics, 2000 - cell.com
The mammalian mitochondrial genome (mtDNA) is a small double-stranded DNA molecule
that is exclusively transmitted down the maternal line. Pathogenic mtDNA mutations are …

Mitochondrial disease in adults: recent advances and future promise

YS Ng, LA Bindoff, GS Gorman, T Klopstock… - The Lancet …, 2021 - thelancet.com
Mitochondrial diseases are some of the most common inherited neurometabolic disorders,
and major progress has been made in our understanding, diagnosis, and treatment of these …