User profiles for "author:Doug Turnbull"
Doug TurnbullProfessor 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 …
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 …
disease, the health, social and economic impact resulting from Parkinson's disease will …
The genetics and pathology of mitochondrial disease
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 …
eukaryotic cells and are responsible for the production of cellular energy in the form of ATP …
What causes mitochondrial DNA deletions in human cells?
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 …
likely to have a central role in the aging of postmitotic tissues. Understanding the mechanism …
[PDF][PDF] Mitochondrial diseases: hope for the future
Mitochondrial diseases are clinically heterogeneous disorders caused by a wide spectrum
of mutations in genes encoded by either the nuclear or the mitochondrial genome …
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 …
Mitochondria are now established to play a part in the pathogenesis of MS. Uniquely …
Mitochondrial DNA and disease
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 …
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 …
genetic diseases. The involvement of both the mitochondrial and nuclear genome presents …
The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?
The mammalian mitochondrial genome (mtDNA) is a small double-stranded DNA molecule
that is exclusively transmitted down the maternal line. Pathogenic mtDNA mutations are …
that is exclusively transmitted down the maternal line. Pathogenic mtDNA mutations are …
Mitochondrial disease in adults: recent advances and future promise
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 …
and major progress has been made in our understanding, diagnosis, and treatment of these …