Search Results - "Lightowlers, R. N. "

Progress and prospects: gene therapy for mitochondrial DNA disease by Kyriakouli, D S, Boesch, P, Taylor, R W, Lightowlers, R N

“…Defects of the mitochondrial genome cause a wide variety of clinical disorders. Except for rare cases where surgery or transplant is indicated, there is no…”
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Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement by Betts, J., Jaros, E., Perry, R. H., Schaefer, A. M., Taylor, R. W., Abdel-All, Z., Lightowlers, R. N., Turnbull, D. M.

“…Mitochondrial DNA (mtDNA) disease is an important genetic cause of neurological disability. A variety of different clinical features are observed and one of…”
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Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA by Turnbull, Douglass M, Andrews, Richard M, Kubacka, Iwona, Chinnery, Patrick F, Lightowlers, Robert N, Howell, Neil

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Transmission of mitochondrial DNA disorders: possibilities for the future by Brown, DT, Herbert, M, Lamb, VK, Chinnery, PF, Taylor, RW, Lightowlers, RN, Craven, L, Cree, L, Gardner, JL, Turnbull, DM

“…Many adults and children with mitochondrial disease carry inheritable defects of the mitochondrial genome, with at least one in 8500 of the population carrying…”
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Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation by Kirby, D. M. , Rennie, K. J. , Smulders-Srinivasan, T. K. , Acin-Perez, R. , Whittington, M. , Enriquez, J.-A. , Trevelyan, A. J. , Turnbull, D. M. , Lightowlers, R. N. 

“…Objectives:  Defects of the mitochondrial genome (mtDNA) cause a series of rare, mainly neurological disorders. In addition, they have been implicated in more…”
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Analysis of European mtDNAs for Recombination by Elson, J.L., Andrews, R.M., Chinnery, P.F., Lightowlers, R.N., Turnbull, D.M., Howell, Neil

“…The standard paradigm postulates that the human mitochondrial genome (mtDNA) is strictly maternally inherited and that, consequently, mtDNA lineages are…”
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Mammalian mitochondrial genetics: heredity, heteroplasmy and disease by Lightowlers, Robert N., Chinnery, Patrick F., Turnbull, Douglass M., Howell, Neil

“…Mammalian mitochondrial DNA (mtDNA) is present at high copy number (10 3-10 4 copies) in virtually all cells of the body. the mitochondrial genome shows strict…”
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Molecular pathology of MELAS and MERRF the relationship between mutation load and clinical phenotypes by CHINNERY, P. F, HOWELL, N, LIGHTOWLERS, R. N, TURNBULL, D. M

“…Many patients with inherited mitochondrial encephalopathies have one of two pathogenic mutations of mitochondrial DNA (mtDNA): A3243G or A8344G. Individuals…”
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Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle by Brierley, E J, Johnson, M A, Lightowlers, R N, James, O F, Turnbull, D M

“…It has been proposed that one mechanism for nerve and muscle dysfunction with age involves the mitochondria. Mitochondria contain the only DNA outside the…”
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Potential compounds for the treatment of mitochondrial disease by Rai, P K, Russell, O M, Lightowlers, R N, Turnbull, D M

“…Mitochondrial diseases are a group of heterogeneous disorders for which no curative therapy is currently available. Several drugs are currently being pursued…”
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Mitochondrial DNA deletion in “identical” twin brothers by Blakely, E L, He, L, Taylor, R W, Chinnery, P F, Lightowlers, R N, Schaefer, A M, Turnbull, D M

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Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids by Taylor, Robert W, Chinnery, Patrick F, Turnbull, Douglass M, Lightowlers, Robert N

“…Mitochondrila DNA (mtDNA) is the only extrachromosomal DNA in humans. It is a small (16.5 kb) genome which encodes 13 essential peptides of the respiratory…”
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Peptide nucleic acid delivery to human mitochondria by CHINNERY, P. F, TAYLOR, R. W, DIEKERT, K, LILL, R, TURNBULL, D. M, LIGHTOWLERS, R. N

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Why do mammalian mitochondria possess a mismatch repair activity? by Mason, P.A., Lightowlers, R.N.

“…All nucleated mammalian cells contain mitochondrial DNA, a small (approximately 15–17 kb) circular genome found in the matrix. This molecule is present in…”
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MELAS and MERRF : The relationship between maternal mutation load and the frequency of clinically affected offspring by CHINNERY, P. F, HOWELL, N, LIGHTOWLERS, R. N, TURNBULL, D. M

“…The majority of pathogenic mitochondrial DNA (mtDNA) mutations are heteroplasmic, with both mutant and wild-type alleles present within the same individual…”
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An mtDNA Mutation in the Initiation Codon of the Cytochrome C Oxidase Subunit II Gene Results in Lower Levels of the Protein and a Mitochondrial Encephalomyopathy by Clark, Kim M., Taylor, Robert W., Johnson, Margaret A., Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M.A., Andrews, Richard M., Nelson, Isobel P., Wood, Nicholas W., Lamont, Phillipa J., Hanna, Michael G., Lightowlers, Robert N., Turnbull, Douglass M.

“…A novel heteroplasmic 7587T→C mutation in the mitochondrial genome which changes the initiation codon of the gene encoding cytochrome c oxidase subunit II (COX…”
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Absence of expression from RNA internalised into electroporated mammalian mitochondria by McGregor, A, Temperley, R, Chrzanowska-Lightowlers, Z M, Lightowlers, R N

“…Transfection of mammalian mitochondria has proved to be notoriously difficult. Whilst there have been sporadic reports of import of foreign nucleic acids into…”
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Reversal of a mitochondrial DNA defect in human skeletal muscle by Clark, Kim M, Bindoff, Laurence A, Lightowlers, Robert N, Andrews, Richard M, Griffiths, Philip G, Johnson, Margaret A, Brierley, Elizabeth J, Turnbull, Douglass M

“…Mitochondrial DNA (mtDNA), the only extrachromosomal DNA in human cells, is a small genome with 16.5 kb of DNA. Defects of this genome, such as point mutations…”
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Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism by BINDOFF, L. A, HOWELL, N, POULTON, J, MCCULLOUGH, D. A, MORTEN, K. J, LIGHTOWLERS, R. N, TURNBULL, D. M, WEBER, K

“…A patient with a mitochondrial myopathy and biochemically proven profound complex I deficiency has a new mutation in mtDNA. This A-to-G transition at position…”
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Intracellular Mitochondrial Triplasmy in a Patient with Two Heteroplasmic Base Changes by Bidooki, S.K., Johnson, M.A., Chrzanowska-Lightowlers, Z., Bindoff, L.A., Lightowlers, R.N.

“…We report the clinical, biochemical, and genetic investigation of a patient with a severe mitochondrial encepha-lomyopathy. Genetic studies identified a novel,…”
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