Research Topics
| Neil HowellSummaryAffiliation: MitoKor Inc Country: USA Publications
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Detail Information
Publications
African Haplogroup L mtDNA sequences show violations of clock-like evolutionNeil Howell
MitoKor Inc, San Diego, California, USA
Mol Biol Evol 21:1843-54. 2004..The results of the clock tests, the network analyses, and the branch length comparisons all caution against the use of simple mtDNA clocks...- Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigreeNeil Howell
MitoKor Inc, 12780 High Bluff Drive, Suite 210, San Diego, CA 92130, USA
Hum Genet 116:28-32. 2005..In other branches, either the double wildtype or double mutant genotype has become essentially homoplasmic... - LHON and other optic nerve atrophies: the mitochondrial connectionNeil Howell
MitoKor, San Diego, Calif, USA
Dev Ophthalmol 37:94-108. 2003..This mitochondrial link provides new avenues of experimental investigation to these major causes of loss of vision... - Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA backgroundNeil Howell
MitoKor, San Diego, California 92121, USA
Am J Med Genet A 119:147-51. 2003..These results, in conjunction with other studies that are reviewed, indicate that 14484 LHON mutations have a low penetrance when they arise in a haplogroup H mtDNA background... 
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathyNeil Howell
MitoKor, San Diego, CA 92121, USA
Am J Hum Genet 72:1460-9. 2003..Finally, analysis of the mtDNA sequences from those pedigrees that did not carry classic LHON mutations suggested candidate pathogenic mutations at nts 9804, 13051, and 14325...- The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree ratesNeil Howell
MitoKor, San Diego, CA 92121, USA
Am J Hum Genet 72:659-70. 2003..In three of these individuals, there were four instances in which an mtDNA mutation was found in one tissue but not in the other. These results are discussed in terms of the occurrence of somatic mtDNA mutations... - Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutationsNeil Howell
MitoKor, San Diego, California 92121, USA
J Neuroophthalmol 22:262-9. 2002..To report the clinical and mitochondrial genetic analyses of two families, each of which carries both the 11778 and 14484 Leber hereditary optic neuropathy (LHON) mutations in mitochondrial DNA... - mtDNA mutations and common neurodegenerative disordersNeil Howell
MIGENIX Corporation, San Diego, CA 92130, USA
Trends Genet 21:583-6. 2005..However, when these new studies are considered in relation to the sum of previous evidence, the role of mtDNA mutations in the development of either AD or PD still remains to be established... - Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroupsCorinna Herrnstadt
MitoKor, San Diego, CA 92121, USA
Am J Hum Genet 70:1152-71. 2002..It is likely that homoplasy in the coding region will confound evolutionary analysis of small sequence sets. By a linkage-disequilibrium approach, additional evidence for the absence of human mtDNA recombination is presented here... - Relative rates of evolution in the coding and control regions of African mtDNAsNeil Howell
MIGENIX Corp, San Diego, CA, USA
Mol Biol Evol 24:2213-21. 2007.... - A high frequency of mtDNA polymorphisms in HeLa cell sublinesCorinna Herrnstadt
MitoKor, 11494 Sorrento Valley Road, San Diego, CA 92121, USA
Mutat Res 501:19-28. 2002..Preliminary analysis of single-cell derived subclone lines revealed the occurrence of another polymorphism and provided evidence for a large number of mtDNA segregation units... - Development of 17alpha-estradiol as a neuroprotective therapeutic agent: rationale and results from a phase I clinical studyJames A Dykens
MIGENIX Corporation, 12780 High Bluff Dr, San Diego, CA 92130, USA
Ann N Y Acad Sci 1052:116-35. 2005..Positive safety and pharmacokinetic data from a successful phase I clinical study with oral 17alpha-E2 (sodium sulfate conjugate) are presented here, and several options for its future clinical assessment are discussed... - Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?Joanna L Elson
Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, The University of Newcastle upon Tyne, and Institute for the Health of the Elderly, Newcastle General Hospital, Newcastle upon Tyne, United Kingdom
Hum Genet 119:241-54. 2006..At most, a small proportion of AD patients carry a pathogenic mtDNA mutation and a small proportion of cognitively normal aged individuals carry a mtDNA mutation that reduces the risk of AD... - The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder eventDoron M Behar
Rappaport Faculty of Medicine and Research Institute, Technion and Rambam Medical Center, Haifa, Israel
Am J Hum Genet 78:487-97. 2006..We conclude that four founding mtDNAs, likely of Near Eastern ancestry, underwent major expansion(s) in Europe within the past millennium... - Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundGavin Hudson
Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
Am J Hum Genet 81:228-33. 2007..Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder... - Origin and diffusion of mtDNA haplogroup XMaere Reidla
Department of Evolutionary Biology, Institute of Molecular and Cell Biology, Tartu University and Estonian Biocentre, Tartu, Estonia
Am J Hum Genet 73:1178-90. 2003..The position of X2a in the phylogenetic tree suggests an early split from the other X2 clades, likely at the very beginning of their expansion and spread from the Near East... - Genotypes from patients indicate no paternal mitochondrial DNA contributionRobert W Taylor
School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
Ann Neurol 54:521-4. 2003..Our findings suggest that paternal transmission of mtDNA is rare and should not alter our genetic advice to families... - A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysisRobert McFarland
Mitochondrial Research Group, Department of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Framlington Place, NE2 4HH, UK
Neuromuscul Disord 14:162-6. 2004..We believe that this study demonstrates the importance of whole mitochondrial genome sequencing and of access to large sequence databases... - Changes in the human mitochondrial genome after treatment of malignant diseaseTheresa M Wardell
Department of Neurology, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, UK
Mutat Res 525:19-27. 2003..Our studies have shown that in patients who have been treated for cancer there is an increased level of mtDNA damage... - Associating mitochondrial DNA variation with complex traitsJoanna L Elson
Am J Hum Genet 80:378-82; author reply 382-3. 2007 - X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patientsElena Pegoraro
Department of Neurological and Psychiatric Sciences, University of Padova, Italy
Am J Med Genet A 119:37-40. 2003..We found no evidence of skewed X-inactivation in the affected tissues, thus weakening further the hypothesized involvement of a specific X chromosome locus in the pathophysiological expression of LHON... - Errors, phantoms and otherwise, in human mtDNA sequencesCorinna Herrnstadt
Am J Hum Genet 72:1585-6. 2003 - Mitochondrial DNA and survival after sepsis: a prospective studySimon V Baudouin
University Department of Surgical and Reproductive Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
Lancet 366:2118-21. 2005..Increased survival after sepsis provides one explanation for this observation. MtDNA haplotyping offers a new means of risk stratification of patients with severe infections, which suggests new avenues for therapeutic intervention... - Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selectionJ L Elson
Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, The Medical School, The University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
Am J Hum Genet 74:229-38. 2004..Finally, our results and those of other investigators do not support a simple model in which climatic adaptation has been a major force during human mtDNA evolution...