Search

Your search keyword '"Turnbull, Douglass M."' showing total 816 results
Start Over Author "Turnbull, Douglass M."
816 results on '"Turnbull, Douglass M."'

217. A homoplasmic mitochondrial transfer Ribonucleic Acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

Author

Taylor, Robert W, primary, Giordano, Carla, additional, Davidson, Mercy M, additional, d’Amati, Giulia, additional, Bain, Hugh, additional, Hayes, Christine M, additional, Leonard, Helen, additional, Barron, Martin J, additional, Casali, Carlo, additional, Santorelli, Filippo M, additional, Hirano, Michio, additional, Lightowlers, Robert N, additional, DiMauro, Salvatore, additional, and Turnbull, Douglass M, additional

Published
2003
Full Text
View/download PDF

219. De novo mutations in the mitochondrialND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Author

McFarland, Robert, primary, Kirby, Denise M., additional, Fowler, Kerry J., additional, Ohtake, Akira, additional, Ryan, Michael T., additional, Amor, David J., additional, Fletcher, Janice M., additional, Dixon, Joanne W., additional, Collins, Felicity A., additional, Turnbull, Douglass M., additional, Taylor, Robert W., additional, and Thorburn, David R., additional

Published
2003
Full Text
View/download PDF

225. The Use of PNAs and Their Derivatives in Mitochondrial Gene Therapy.

Author

Janson, Christopher G., During, Matthew J., Smith, Paul M., Ross, Günther F., Wardell, Theresa M., Taylor, Robert W., Turnbull, Douglass M., and Lightowlers, Robert N.

Abstract

Human mitochondria contain their own genome, mtDNA. This small molecule encodes 24 RNA species and 13 polypeptides, which are essential components of the mitochondrial respiratory chain. The mitochondrial genome is present in hundreds or thousands of copies in each cell and is believed to turnover throughout the life of the cell. Defects of the mitochondrial genome (mtDNA) cause a variety of multisystemic disorders routinely affecting the muscle and nervous system. There is currently no effective treatment for patients with defects of the mitochondrial genome. In many patients, defective cells harbour two sub-populations of mtDNA (a situation termed heteroplasmy), one being normal, the other containing the pathogenic mutation. The mutated copy is often recessive, with biochemical and clinical defects only becoming apparent when the levels of mutated mtDNA outweigh the normal copies. It has therefore been postulated that by selectively preventing replication of the mutated mtDNA, the normal copy will propagate, restoring biochemical function. The search has therefore been on during recent years to identify an antigenomic molecule that will fulfil this criterion. Following evidence that peptide nucleic acids could selectively inhibit replication of templates carrying a known pathogenic mtDNA mutation in vitro, we report on the progress of this approach and the various modifications that are now being used to improve the efficacy of PNA-based antigenomic inhibition. [ABSTRACT FROM AUTHOR]

Published
2006
Full Text
View/download PDF

228. Clinical Diagnosis of Oxidative Phosphorylation Disorders.

Author

Smeitink, Jan A. M., Sengers, Rob C. A., Trijbels, J. M. Frans, McFarland, Robert, Chinnery, Patrick F., Taylor, Robert W., Schaefer, Andrew M., and Turnbull, Douglass M.

Abstract

Oxidative phosphorylation defects are a common group of inborn errors of metabo lism. Patients may present to a variety of different physicians and at any age. Whilst some patients present with a characteristic phenotype that allows early diagnosis, in many the clinical features are suggestive rather than diagnostic. Neurological features are often prominent in all age groups, but the involvement may be diffuse or remarkable specific (for example optic atrophy alone). In other patients, involvement of other systems is more prominent and in some there is evidence of multiorgan failure. Clinical investigations such as imaging, cardiac studies, and endocrine investigations are often supportive of a diagnosis and form an important part of the clinical investigation. The clinical diagnosis of defects of oxidative phosphorylation is likely to remain a challenge with only the alert clinician identifying the difficult cases. [ABSTRACT FROM AUTHOR]

Published
2005
Full Text
View/download PDF

234. Analysis of Mitochondrial DNA Mutations.

Author

Walker, John M., Barnett, Yvonne A., Barnett, Christopher R., Taylor, Robert W., Andrews, Richard M., Chinnery, Patrick F., and Turnbull, Douglass M.

Abstract

Since the first demonstration that mutations of the mitochondrial genome were associated with human disease, more than 100 pathological mitochondrial DNA (mtDNA) defects have been characterized in patients with a broad spectrum of clinical manifestations (1). Single-point mutations, involving either protein-encoding genes or more commonly RNA (rRNA and tRNA) genes, represent a substantial proportion (more than one third) of the pathogenic mtDNA mutations described in the literature, and this number is steadily increasing (2, 3). Although some of the more common mtDNA point mutations can be screened using simple polymerase chain reaction (PCR)-based techniques (e.g., restriction digest analysis), an increasing number of pathological point mutations are identified only when large-scale sequencing of either all 22 tRNA genes or the whole mitochondrial genome is performed (4-7). [ABSTRACT FROM AUTHOR]

Published
2000
Full Text
View/download PDF

238. Nonrandom tissue distribution of mutant mtDNA

Author

Chinnery, Patrick F., primary, Zwijnenburg, Petra J.G., additional, Walker, Mark, additional, Howell, Neil, additional, Taylor, Robert W., additional, Lightowlers, Robert N., additional, Bindoff, Laurence, additional, and Turnbull, Douglass M., additional

Published
1999
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results