Taylor, Robert W.

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

Bender, A., Krishnan, K. J., Morris, C. M., Taylor, G. A., Reeve, A. K., Perry, R. H., Jaros, E., Hersheson, J. S., Betts, J., Klopstock, T., et al. (2006) · Nature Genetics

Mitochondrial Function and PathologyParkinson's Disease Mechanisms and Treatments

Cited by 1,570

Mitochondrial DNA mutations and human disease

Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 676

Genetic diagnosis of Mendelian disorders via RNA sequencing

Kremer, L. S., Bader, D. M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., et al. (2017) · Nature Communications

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 590

Mitochondrial DNA mutations in human colonic crypt stem cells

Taylor, R. W., Barron, M. J., Borthwick, G. M., Gospel, A., Chinnery, P. F., Samuels, D. C., Taylor, G. A., Plusa, S. M., Needham, S. J., Greaves, L. C., et al. (2003) · Journal of Clinical Investigation

Mitochondrial Function and PathologyForensic and Genetic Research

Cited by 530

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

Hudson, G., Amati-Bonneau, P., Blakely, E. L., Stewart, J. D., He, L., Schaefer, A. M., Griffiths, P. G., Ahlqvist, K., Suomalainen, A., Reynier, P., et al. (2008) · Brain

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 428

Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids

Taylor, R. W., Chinnery, P. F., Turnbull, D. M., & Lightowlers, R. N. (1997) · Nature Genetics

Mitochondrial Function and PathologyDNA and Nucleic Acid Chemistry

Cited by 249

Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

Longley, M. J., Clark, S., Yu Wai Man, C., Hudson, G., Durham, S. E., Taylor, R. W., Nightingale, S., Turnbull, D. M., Copeland, W. C., & Chinnery, P. F. (2006) · The American Journal of Human Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 248

Mechanisms of Field Cancerization in the Human Stomach: The Expansion and Spread of Mutated Gastric Stem Cells

McDonald, S. A. C., Greaves, L. C., Gutierrez–Gonzalez, L., Rodriguez–Justo, M., Deheragoda, M., Leedham, S. J., Taylor, R. W., Lee, C. Y., Preston, S. L., Lovell, M., et al. (2008) · Gastroenterology

Gastric Cancer Management and OutcomesCancer Cells and Metastasis

Cited by 242

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network

Vincent, A. E., White, K., Davey, T., Philips, J., Ogden, R. T., Lawless, C., Warren, C., Hall, M. G., Ng, Y. S., Falkous, G., et al. (2019) · Cell Reports

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 195

Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing

Greaves, L. C., Nooteboom, M., Elson, J. L., Tuppen, H. A. L., Taylor, G. A., Commane, D. M., Arasaradnam, R. P., Khrapko, K., Taylor, R. W., Kirkwood, T. B. L., et al. (2014) · PLoS Genetics

Mitochondrial Function and PathologyGenetics, Aging, and Longevity in Model Organisms

Cited by 172

Locating the stem cell niche and tracing hepatocyte lineages in human liver #

Fellous, T. G., Islam, S., Tadrous, P. J., Elia, G., Kocher, H. M., Bhattacharya, S., Mears, L., Turnbull, D. M., Taylor, R. W., Greaves, L. C., et al. (2009) · Hepatology

Liver physiology and pathologyMesenchymal stem cell research

Cited by 157

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

Spiegel, R., Saada, A., Flannery, P. J., Burté, F., Soiferman, D., Khayat, M., Eisner, V., Vladovski, E., Taylor, R. W., Bindoff, L. A., et al. (2016) · Journal of Medical Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 117

Succinate‐CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 : phenotype and genotype correlations in 71 patients

Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., et al. (2016) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 90

Progress and prospects: gene therapy for mitochondrial DNA disease

Kyriakouli, D. S., Boesch, P., Taylor, R. W., & Lightowlers, R. N. (2008) · Gene Therapy

Mitochondrial Function and PathologyCRISPR and Genetic Engineering

Cited by 76

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

Peter, B., Waddington, C. L., Oláhová, M., Sommerville, E. W., Hopton, S., Pyle, A., Champion, M., Ohlson, M., Siibak, T., Chrzanowska-Lightowlers, Z. M. A., et al. (2018) · Human Molecular Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 66

Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number

Pohjoismäki, J. L. O., Goffart, S., Taylor, R. W., Turnbull, D. M., Suomalainen, A., Jacobs, H. T., & Karhunen, P. J. (2010) · PLoS ONE

Mitochondrial Function and PathologyGenomic variations and chromosomal abnormalities

Cited by 50

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Swalwell, H., Blakely, E. L., Sutton, R., Tonska, K., Elstner, M., He, L., Taivassalo, T., Burns, D. K., Turnbull, D. M., Haller, R. G., et al. (2008) · European Journal of Human Genetics

Mitochondrial Function and PathologyGenomics and Rare Diseases

Cited by 34

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits

Craig, K., Young, M. J., Blakely, E. L., Longley, M. J., Turnbull, D. M., Copeland, W. C., & Taylor, R. W. (2012) · Mitochondrion

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 24

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease

Pagliarini, D., Sung, A., Guerra, R., Steenberge, L., Alston, C., Murayama, K., Okazaki, Y., Shimura, M., Prokisch, H., Ghezzi, D., et al. (2023) · Nature Metabolism

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 23

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Glasgow, R. I. C., Thompson, K., Barbosa, I. A., He, L., Alston, C. L., Deshpande, C., Simpson, M. A., Morris, A. A. M., Neu, A., Löbel, U., et al. (2017) · neurogenetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 17