Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction.

[1]  G. Lenaers,et al.  Loss of OPA1 Perturbates the Mitochondrial Inner Membrane Structure and Integrity, Leading to Cytochrome c Release and Apoptosis* , 2003, The Journal of Biological Chemistry.

[2]  W. Hauswirth,et al.  Optic neuropathy induced by reductions in mitochondrial superoxide dismutase. , 2003, Investigative ophthalmology & visual science.

[3]  A. Schapira,et al.  Leber's Hereditary Optic Neuropathy (LHON) Pathogenic Mutations Induce Mitochondrial-dependent Apoptotic Death in Transmitochondrial Cells Incubated with Galactose Medium* , 2003, The Journal of Biological Chemistry.

[4]  Eric S. Lander,et al.  Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[5]  P. Bénit,et al.  Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes. , 2002, Human molecular genetics.

[6]  M. Seldin,et al.  Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. , 2002, Human molecular genetics.

[7]  Xiaoming Li,et al.  A Human Mitochondrial GTP Binding Protein Related to tRNA Modification May Modulate Phenotypic Expression of the Deafness-Associated Mitochondrial 12S rRNA Mutation , 2002, Molecular and Cellular Biology.

[8]  A. Torroni,et al.  Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy. , 2002, Biochimica et biophysica acta.

[9]  G. Kroemer,et al.  Mitochondria, the killer organelles and their weapons , 2002, Journal of cellular physiology.

[10]  Xinhua Lin,et al.  Isolation and Characterization of the Putative Nuclear Modifier Gene MTO1 Involved in the Pathogenesis of Deafness-associated Mitochondrial 12 S rRNA A1555G Mutation* , 2002, The Journal of Biological Chemistry.

[11]  Ronald W. Davis,et al.  Systematic screen for human disease genes in yeast , 2002, Nature Genetics.

[12]  D. Turnbull,et al.  NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy , 2002, Neurology.

[13]  Alfredo A. Sadun,et al.  Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies , 2002, Neurochemistry International.

[14]  A. Marian Modifier genes for hypertrophic cardiomyopathy. , 2002, Current opinion in cardiology.

[15]  S. Dimauro,et al.  Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation. , 2002, Biochemical and biophysical research communications.

[16]  A. Schapira,et al.  Cells Bearing Mutations Causing Leber's Hereditary Optic Neuropathy Are Sensitized to Fas-induced Apoptosis* , 2002, The Journal of Biological Chemistry.

[17]  G. Lenaers,et al.  OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. , 2002, Molecular genetics and metabolism.

[18]  B. McEwen Invited review: Estrogens effects on the brain: multiple sites and molecular mechanisms. , 2001, Journal of applied physiology.

[19]  H. Katus,et al.  Cardiomyopathies: from genetics to the prospect of treatment , 2001, The Lancet.

[20]  J. Taanman A nuclear modifier for a mitochondrial DNA disorder. , 2001, Trends in genetics : TIG.

[21]  N. Newman,et al.  Ocular pathology in mitochondrial superoxide dismutase (Sod2)-deficient mice. , 2001, Investigative ophthalmology & visual science.

[22]  G. Attardi,et al.  Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. , 2001, Human molecular genetics.

[23]  S. Dimauro,et al.  Mitochondrial DNA mutations in human disease. , 2001, American journal of medical genetics.

[24]  Y. Bykhovskaya,et al.  A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice , 2001, Nature Genetics.

[25]  G. Cortopassi,et al.  Mitochondrial defects and hearing loss , 2000, Cellular and Molecular Life Sciences CMLS.

[26]  X. Estivill,et al.  Candidate locus for a nuclear modifier gene for maternally inherited deafness. , 2000, American journal of human genetics.

[27]  T. Borg,et al.  Regulation of cardiac myocyte protein turnover and myofibrillar structure in vitro by specific directions of stretch. , 1999, Circulation research.

[28]  X. Estivill,et al.  The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. , 1999, American journal of human genetics.

[29]  D. Wallace Mitochondrial diseases in man and mouse. , 1999, Science.

[30]  G. Comi,et al.  Coexistence of mitochondrial DNA and β myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure , 1998, Heart.

[31]  G. Colby,et al.  MTO1 Codes for a Mitochondrial Protein Required for Respiration in Paromomycin-resistant Mutants of Saccharomyces cerevisiae* , 1998, The Journal of Biological Chemistry.

[32]  C. Moraes,et al.  Simultaneous transfer of mitochondrial DNA and single chromosomes in somatic cells: a novel approach for the study of defects in nuclear-mitochondrial communication. , 1998, Human molecular genetics.

[33]  D. Mackey,et al.  Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy. , 1998, American journal of human genetics.

[34]  S. Tabrizi,et al.  The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy , 1998, Annals of neurology.

[35]  M. Zeviani,et al.  Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. , 1997, American journal of human genetics.

[36]  G. Attardi,et al.  Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. , 1996, Human molecular genetics.

[37]  Mordechai Shohat,et al.  Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness , 1993, Nature Genetics.

[38]  J. Rotter,et al.  Sensorineural deafness inherited as a tissue specific mitochondrial disorder. , 1992, Journal of medical genetics.

[39]  J. Rotter,et al.  X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[40]  F. Sanger,et al.  Sequence and organization of the human mitochondrial genome , 1981, Nature.

[41]  D. Dorsa,et al.  Estrogen receptor-mediated neuroprotection from oxidative stress requires activation of the mitogen-activated protein kinase pathway. , 2003, Endocrinology.

[42]  Yusuke Nakamura,et al.  Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. , 2003, American journal of human genetics.

[43]  Domenico Catalano,et al.  MitoDrome: a database of Drosophila melanogaster nuclear genes encoding proteins targeted to the mitochondrion , 2003, Nucleic Acids Res..

[44]  V. Carelli Chapter 4 Leber's Hereditary Optic Neuropathy , 2002 .

[45]  V. Carelli,et al.  A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy. , 2002, Transactions of the American Ophthalmological Society.