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Moraes CT: Mitochondrial disorders. Curr Opin Neurol 1996, 9:369-374.
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Moraes, C.T.1
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Oxidative stress and mitochondrial dysfunction in neurodegeneration
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Schapira AHV: Oxidative stress and mitochondrial dysfunction in neurodegeneration. Curr Opin Neurol 1996, 9:260-264.
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Curr Opin Neurol
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Schapira, A.H.V.1
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0029759163
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How rapidly does the human mitochondrial genome evolve?
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Howell N, Kubacka I, Mackey DA: How rapidly does the human mitochondrial genome evolve? Am J Hum Genet 1996, 59:501-509. D-loop sequencing individuals in a LHON pedigree documented the appearance of new mutations and plotted segregation through the lineage. This paper is important in causing us to re-evaluate the evolutionary rate of mtDNA and the assumption that heteroplasmy is synonymous with pathogenicity.
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Am J Hum Genet
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Howell, N.1
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Mutational hot spots in the mitochondrial microcosm
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Pääbo S: Mutational hot spots in the mitochondrial microcosm. Am J Hum Genet 1996, 59:493-496.
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Pääbo, S.1
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Rearranged mitochondrial genomes are present in human oocytes
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Chen X, Prosser R, Simonetti S, Sadlock J, Jagiello G, Schon EA: Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet 1995, 57:239-247. mtDNA molecules bearing the common deletion are present in control oocytes. This observation helps understanding of the origin of sporadic mitochondrial disorders such as Kearns-Sayre syndrome and chronic progressive external opthalmoplegia.
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Am J Hum Genet
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Chen, X.1
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6
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0030059913
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Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids
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Dunbar DR, Moonie PA, Zeviani M, Holt IJ: Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids. Hum Mol Genet 1996, 5:123-129. See [7•].
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Dunbar, D.R.1
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7
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0029812866
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Mitochondrial DNA and RNA processing in MELAS
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Kaufmann P, Koga Y, Shanske S, Hirano M, DiMauro S, King MP, Schon EA: Mitochondrial DNA and RNA processing in MELAS. Ann Neurol 1996, 40:172-180. The 3243 mutation caused a significant complex I deficiency at a lower mutation threshold than previously observed. This mutation may cause impaired protein translation through an RNA-19 transcript blockade of mitochondrial ribosomes.
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Ann Neurol
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Kaufmann, P.1
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Schon, E.A.7
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8
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0026573082
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Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
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Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Mol Cell Biol 1992, 12:480-490.
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King, M.P.1
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9
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Bcl-2 blocks apoptosis in cells lacking mitochondrial DNA
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Jacobson, M.D.1
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Raff, M.C.6
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10
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Programmed cell death and Bcl-2 protection in the absence of a nucleus
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Jacobson, M.D.1
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11
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Cell-free apoptosis in Xenopus egg extracts: Inhibition of Bcl-2 and requirements for an organelle fraction enriched in mitochondria
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Newmeyer, D.D.1
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9244237035
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Apoptosis-associated derangement of mitochondrial function in cells lacking mitochondrial DNA
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Marchetti P, Susin SA, Decaudin D, Gamen S, Castedo M, Hirsch T, Zamzami N, Naval J, Senik A, Kroemer G: Apoptosis-associated derangement of mitochondrial function in cells lacking mitochondrial DNA. Cancer Res 1996, 56:2033-2018. Changes in mitochondrial transmembrane potential precede the generation of reactive oxygen species and DNA fragmentation. A mitochondrial factor greater than 10 000 Da is released during transmembrane potential induced mega-channel opening and is important in the apoptotic process.
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Marchetti, P.1
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Hirsch, T.6
Zamzami, N.7
Naval, J.8
Senik, A.9
Kroemer, G.10
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13
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Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication
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Bodnar AG, Cooper JM, Leonard JV, Schapira AHV: Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication. Biochem J 1995, 305:817-822.
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Biochem J
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Bodnar, A.G.1
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14
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0028053663
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Recent progress on regulation of the mitochondrial permeability transition pore: A cyclosporin-sensitive pore in the inner mitochondrial membrane
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Bernardi P, Broeckemeier KM, Pfieffer DR: Recent progress on regulation of the mitochondrial permeability transition pore: a cyclosporin-sensitive pore in the inner mitochondrial membrane. J Bioenerg Biomembr 1994, 26:509-517.
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Bernardi, P.1
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15
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Exposure to phosphatidylserine on the surface of apoptotic lymphocytes triggers specific recognition and removal by macrophages
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Fadok VA, Voleker DR, Campbell PA, Cohen JJ, Bratton DL, Henson PM: Exposure to phosphatidylserine on the surface of apoptotic lymphocytes triggers specific recognition and removal by macrophages. J Immunol 1992, 148:2207-2216.
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Fadok, V.A.1
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Bratton, D.L.5
Henson, P.M.6
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16
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0029944880
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Sequential acquisition of mitochondrial and plasma membrane alterations during early lymphocyte apoptosls
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Castedo M, Hirsch T, Susin SA, Zamzami N, Marchetti P, Macho A, Kroemer G: Sequential acquisition of mitochondrial and plasma membrane alterations during early lymphocyte apoptosls. J Immunol 1996, 157:512-521.
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Castedo, M.1
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Macho, A.6
Kroemer, G.7
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17
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0029064615
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Pedigree analysis in Leber's hereditary optic neuropathy families with a pathogenic mtDNA mutation
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Harding AE, Sweeney MG, Govan GG, Riordan-Eva P: Pedigree analysis in Leber's hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 1995, 57:77-86. A detailed analysis of UK LHON pedigrees which described penetration and recurrence risks in family members. A potential role for the X chromosome in determining susceptibility is supported but not confirmed.
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Harding, A.E.1
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18
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0029981001
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Evidence against an X-linked visual loss susceptibility locus in Leber's hereditary optic neuropathy
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Chalmers RM, Davis MB, Sweeney MG, Wood NW, Harding AE: Evidence against an X-linked visual loss susceptibility locus in Leber's hereditary optic neuropathy. Am J Hum Genet 1996, 59:103-108.
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Am J Hum Genet
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Chalmers, R.M.1
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Harding, A.E.5
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19
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0030049093
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X-inactlvatlon patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant
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Pegoraro E, Carelli V, Zeviani M, Cortelli P, Montagna P, Barboni P, Angelini C, Hoffman EP: X-inactlvatlon patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. Am J Med Genet 1996, 61:356-362.
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Angelini, C.7
Hoffman, E.P.8
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20
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Nuclear complementation in Leber's hereditary optic neuropathy
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Cock HR, Cooper JM, Schapira AHV: Nuclear complementation in Leber's hereditary optic neuropathy [Abstract]. Neurology 1995, 45:A294.
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Neurology
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Cock, H.R.1
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Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy
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Hofhaus G, Johns DR, Hurko O, Attardi G, Chomyn A: Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. J Biol Chem 1996, 271:13155-13161. The 11778 LHON mutation causes a defect in oxygen utilisation which persists in cybrid cells. This suggests that, at least with this mutation, no nuclear factor is required for biochemical expression.
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Hofhaus, G.1
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Genetic and biochemical impairment of mito-chondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
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De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RMW, Bolhuis PA, van Ooost BA: Genetic and biochemical impairment of mito-chondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 1996, 58:703-711. A large LHON-dystonia pedigree with two novel mtDNA mutations.
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Am J Hum Genet
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Hofstra, R.M.W.5
Bolhuis, P.A.6
Van Ooost, B.A.7
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23
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0030060823
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Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia
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0 cybrids. The mutation may affect the coenzyme Q binding site of complex I.
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Electron transfer complex I defect in idiopathic dystonia
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Complex I function in familial and sporadic dystonia
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in press
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Schapira AHV, Warner T, Gash MT, Cleeter MJW, Marinho CFM, Cooper JM: Complex I function in familial and sporadic dystonia. Ann Neurol 1997 (in press).
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Ann Neurol
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Schapira, A.H.V.1
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Subcellular localization of Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation
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Cortical and subcortical glucose consumption measured by PET in patients with Huntington's disease
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Mitochondrial defect in Huntington's disease caudate nucleus
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Gu M, Cooper JM, Gash M, Mann VM, Javoy-Agid F, Schapira AHV: Mitochondrial defect in Huntington's disease caudate nucleus. Ann Neurol 1996, 39:385-389. A severe deficiency of complexes II and III was seen in Huntington's disease caudate nucleus. This supports the existence of a defect of energy metabolism in the pathogenesis of the disease.
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Ann Neurol
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Gu, M.1
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