Douglass M. Turnbull

Newcastle upon Tyne Hospitals NHS Foundation Trust — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

125h-index58.4kcitations818works6.02yr avg
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Research Topics

Mitochondrial Function and Pathology(598), Metabolism and Genetic Disorders(461), ATP Synthase and ATPases Research(175), Genetic Neurodegenerative Diseases(89), RNA modifications and cancer(44)

Publications816 total

Quantifying variability of mitochondrial markers in m3243A > G myopathy
Scientific Reports·2025Open Access
Spatial Variability in Mitochondrial Markers in m.3243A>G-related Myopathy: Translational Implications for Longitudinal Studies
2025Open Access
Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease
New England Journal of Medicine·2025· 22 citedOpen Access
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease
New England Journal of Medicine·2025· 25 citedOpen Access
Mapping mitochondrial morphology and function: COX-SBFSEM reveals patterns in mitochondrial disease
Communications Biology·2025· 3 citedOpen Access
Novel m.3764C>G variant in MT-ND1 linked to severe MELAS syndrome: A case report
Brain and Development Case Reports·2025· 1 citedOpen Access
Variant load of mitochondrial DNA in single human mesenchymal stem cells
Scientific Reports·2024Open Access
A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease·2024· 3 citedOpen Access
Variant load of Mitochondrial DNA in single human Mesenchymal stem cells
Research Square (Research Square)·2023· 1 citedOpen Access
Mitochondrial morphology and function in mitochondrial disease
2023Open Access
A novel, wave-shaped profile of germline selection of pathogenic mtDNA mutations is discovered by bypassing a classical statistical bias
2023· 5 citedOpen Access
A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders
2023Open Access
A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction
Communications Biology·2023· 9 citedOpen Access
Feasibility and impact of haplogroup matching for mitochondrial replacement treatment
EMBO Reports·2023· 3 citedOpen Access
Cell division can accelerate the loss of a heteroplasmic mitochondrial DNA mutation in a mouse model of mitochondrial disease
2023· 2 citedOpen Access
THE USE OF IMAGING MASS CYTOMETRY TO INVESTIGATE THE POTENTIAL ROLE OF MITOCHONDRIAL DEFICIENCY IN OSTEOPOROSIS
Orthopaedic Proceedings·2023
Uncoupling of energy production
Cell Metabolism·2022· 1 cited
Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder
2022· 2 citedOpen Access
Endocrine manifestations and new developments in mitochondrial disease
Yearbook of pediatric endocrinology·2022· 3 cited
Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline
Human Molecular Genetics·2022· 14 citedOpen Access
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Frequent Co-authors

Robert W. Taylor(23), Patrick F. Chinnery(20), Robert N. Lightowlers(8), Robert McFarland(8), Laurence A. Bindoff(7), Neil Howell(6), Amy K. Reeve(6), Gráinne S. Gorman(6), Emma L. Blakely(6), Andrew M. Schaefer(5), Charlotte L. Alston(5), David R. Thorburn(4), David C. Samuels(4), Kim J. Krishnan(3), Anu Suomalainen(3), Massimo Zeviani(3), Rita Horváth(3), Helen Tuppen(3), Langping He(3), Laura C. Greaves(3)