Valerio Carelli

Summary

Affiliation: University of Bologna
Country: Italy

Publications

  1. ncbi request reprint Myelin, mitochondria, and autoimmunity: what's the connection?
    Valerio Carelli
    Neurology 70:1075-6. 2008
  2. ncbi request reprint Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993
    Alessandra Baracca
    Dipartimento di Biochimica G Moruzzi, Via Irnerio 48, Universita di Bologna, 40126 Bologna, and Fondazione Ospedale Maggiore IRCCS Centro Dino Ferrari, Milano, Italy
    Biochim Biophys Acta 1767:913-9. 2007
  3. pmc Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases
    V Carelli
    Doheny Eye Institute, University of Southern California, Los Angeles, California, USA
    J Neurol Neurosurg Psychiatry 71:813-6. 2001
  4. ncbi request reprint Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration
    Valerio Carelli
    Dipartimento di Scienze Neurologiche, Universita di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy
    Biochim Biophys Acta 1658:172-9. 2004
  5. ncbi request reprint Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction
    Valerio Carelli
    Dipartimento di Scienze Neurologiche, Universita di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy
    Trends Genet 19:257-62. 2003
  6. ncbi request reprint Mitochondrial dysfunction as a cause of optic neuropathies
    Valerio Carelli
    Doheny Eye Institute and Department of Ophthalmology, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA
    Prog Retin Eye Res 23:53-89. 2004
  7. ncbi request reprint Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation
    Valerio Carelli
    Istituto di Clinica Neurologica, Universita di Bologna, Via U Foscolo 7, 40123 Bologna, Italy
    Arch Neurol 59:264-70. 2002
  8. pmc Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study
    Alfredo A Sadun
    Keck USC School of Medicine Doheny Eye Institute, Los Angeles, California, USA
    Trans Am Ophthalmol Soc 104:51-61. 2006
  9. pmc The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity
    Anna Ghelli
    Dipartimento di Biologia Evoluzionistica Sperimentale, Universita di Bologna, Bologna, Italy
    PLoS ONE 4:e7922. 2009
  10. ncbi request reprint Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy
    Alfredo A Sadun
    Keck University of Southern California School of Medicine Doheny Eye Institute, Los Angeles, CA 90033, USA
    Am J Ophthalmol 136:231-8. 2003

Detail Information

Publications79

  1. ncbi request reprint Myelin, mitochondria, and autoimmunity: what's the connection?
    Valerio Carelli
    Neurology 70:1075-6. 2008
  2. ncbi request reprint Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993
    Alessandra Baracca
    Dipartimento di Biochimica G Moruzzi, Via Irnerio 48, Universita di Bologna, 40126 Bologna, and Fondazione Ospedale Maggiore IRCCS Centro Dino Ferrari, Milano, Italy
    Biochim Biophys Acta 1767:913-9. 2007
    ....
  3. pmc Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases
    V Carelli
    Doheny Eye Institute, University of Southern California, Los Angeles, California, USA
    J Neurol Neurosurg Psychiatry 71:813-6. 2001
    ..EEG failed to disclose epileptic figures, and a back averaging study suggested that myoclonus was cortical in origin in both patients...
  4. ncbi request reprint Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration
    Valerio Carelli
    Dipartimento di Scienze Neurologiche, Universita di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy
    Biochim Biophys Acta 1658:172-9. 2004
    ....
  5. ncbi request reprint Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction
    Valerio Carelli
    Dipartimento di Scienze Neurologiche, Universita di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy
    Trends Genet 19:257-62. 2003
    ..The nuclear modifier could be a common functional polymorphism in a tissue-specific protein, possibly with mitochondrial location...
  6. ncbi request reprint Mitochondrial dysfunction as a cause of optic neuropathies
    Valerio Carelli
    Doheny Eye Institute and Department of Ophthalmology, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA
    Prog Retin Eye Res 23:53-89. 2004
    ....
  7. ncbi request reprint Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation
    Valerio Carelli
    Istituto di Clinica Neurologica, Universita di Bologna, Via U Foscolo 7, 40123 Bologna, Italy
    Arch Neurol 59:264-70. 2002
    ....
  8. pmc Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study
    Alfredo A Sadun
    Keck USC School of Medicine Doheny Eye Institute, Los Angeles, California, USA
    Trans Am Ophthalmol Soc 104:51-61. 2006
    ....
  9. pmc The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity
    Anna Ghelli
    Dipartimento di Biologia Evoluzionistica Sperimentale, Universita di Bologna, Bologna, Italy
    PLoS ONE 4:e7922. 2009
    ..This proof of principle has broad implications for other neurodegenerative disorders such as Parkinson's disease...
  10. ncbi request reprint Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy
    Alfredo A Sadun
    Keck University of Southern California School of Medicine Doheny Eye Institute, Los Angeles, CA 90033, USA
    Am J Ophthalmol 136:231-8. 2003
    ..To conduct systematic epidemiologic, neuro-ophthalmologic, psychophysical, and mitochondrial DNA (mtDNA) genetic examinations on a newly identified pedigree with Leber hereditary optic neuropathy (LHON)...
  11. ncbi request reprint The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy
    Maria Lucia Valentino
    Dipartimento di Scienze Neurologiche, Universita di Bologna, Italy
    Ann Neurol 56:631-41. 2004
    ..This finding shows that, in addition to ND6, the ND1 subunit gene is also a mutational hot spot for LHON...
  12. ncbi request reprint Bioenergetics of mitochondrial diseases associated with mtDNA mutations
    Giorgio Lenaz
    Dipartimento di Biochimica G Moruzzi, Universita di Bologna, Via Irnerio 48, Bologna 40126, Italy
    Biochim Biophys Acta 1658:89-94. 2004
    ....
  13. doi request reprint Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders
    Valerio Carelli
    Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, 40123, Bologna, Italy
    Biochim Biophys Acta 1787:518-28. 2009
    ....
  14. doi request reprint Visual system involvement in patients with Friedreich's ataxia
    Filippo Fortuna
    Dipartimento di Scienze Neurologiche, Universita di Bologna, Bologna, Italy
    Brain 132:116-23. 2009
    ..Occasional LHON-like cases may occur. However, optic neuropathy in FRDA substantially differs from classic mitochondrial optic neuropathies implying a different pathophysiology of visual system degeneration in this mitochondrial disease...
  15. doi request reprint Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids
    Anna Ghelli
    Dipartimento di Biologia Evoluzionistica Sperimentale, Universita di Bologna, Bologna, Italy
    Invest Ophthalmol Vis Sci 49:671-6. 2008
    ..To use different paradigms of oxidative and metabolic stress in a cellular model of Leber hereditary optic neuropathy (LHON), with the aim of evaluating the efficacy of potentially therapeutic molecules for the treatment of this disease...
  16. doi request reprint OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
    Claudia Zanna
    Dipartimento di Biologia Evoluzionistica Sperimentale, Universita di Bologna, Via Irnerio 42, 40126 Bologna, Italy
    Brain 131:352-67. 2008
    ..The results disclose a novel link between OPA1, apoptosis inducing factor and the respiratory complexes that may shed some light on the pathogenic mechanism of DOA...
  17. pmc Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA
    Gianluca Sgarbi
    Dipartimento di Biochimica G Moruzzi, Via Irnerio 48, Universita di Bologna, 40126 Bologna, Italy
    Biochem J 395:493-500. 2006
    ..We discuss our findings in view of the current knowledge regarding the rotary mechanism of catalysis of the enzyme...
  18. pmc Mathematically modeling the involvement of axons in Leber's hereditary optic neuropathy
    Billy X Pan
    Doheny Eye Institute and Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA
    Invest Ophthalmol Vis Sci 53:7608-17. 2012
    ..The present study seeks to predict the order of axonal loss in LHON optic nerves using the Nerve Fiber Layer Stress Index (NFL-S(I)), which is a novel mathematical model...
  19. ncbi request reprint Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy
    Raffaele Lodi
    Dipartimento di Medicina Clinica e Biotecnologia Applicata, Universita di Bologna, Bologna, Italy
    Ann Neurol 56:719-23. 2004
    ..Our in vivo results show for the first time to our knowledge a deficit of oxidative phosphorylation in OPA1-related DOA...
  20. ncbi request reprint Leber's hereditary optic neuropathy with childhood onset
    Piero Barboni
    Dipartimento di Scienze Neurologiche, Universita di Bologna, Bologna, Italy
    Invest Ophthalmol Vis Sci 47:5303-9. 2006
    ..To characterize the clinical features of childhood-onset Leber's hereditary optic neuropathy (LHON) as defined by a pathogenic mtDNA mutation and age at onset equal to or less than 10 years of age...
  21. ncbi request reprint Apoptotic cell death of cybrid cells bearing Leber's hereditary optic neuropathy mutations is caspase independent
    Claudia Zanna
    Dipartimento di Biologia Evoluzionistica Sperimentale, Universita di Bologna, Bologna, Italy
    Ann N Y Acad Sci 1010:213-7. 2003
    ..It remains to be explained how the significant fragmentation of intranucleosomal DNA observed in LHON cybrids could also occur in the absence of caspase activation...
  22. doi request reprint A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus function
    Giuseppe Gasparre
    Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, Genetica Medica, Universita di Bologna, Italy
    Cancer Res 71:6220-9. 2011
    ..We suggest these genes be termed oncojanus genes to recognize their ability to contribute either oncogenic or suppressive functions in mitochondrial settings during tumorigenesis...
  23. doi request reprint Mitochondrial optic neuropathies: our travels from bench to bedside and back again
    Alfredo A Sadun
    Doheny Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA
    Clin Experiment Ophthalmol 41:702-12. 2013
    ..Basic science questions are often best answered by that extraordinary experiment of nature that we call clinical disease, and clinical questions are often best tested in the laboratory. ..
  24. ncbi request reprint Mitochondrial optic neuropathies: how two genomes may kill the same cell type?
    Valerio Carelli
    Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna, 40123, Italy
    Biosci Rep 27:173-84. 2007
    ..We here review the clinical features and the genetic bases, and delineate the possible common pathomechanism for both these disorders...
  25. pmc The optic nerve: a "mito-window" on mitochondrial neurodegeneration
    Alessandra Maresca
    IRCCS Istituto delle Scienze Neurologiche di Bologna, University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy
    Mol Cell Neurosci 55:62-76. 2013
    ..This may be a model of general value for the field of neurodegeneration. This article is part of a Special Issue entitled 'Mitochondrial function and dysfunction in neurodegeneration'...
  26. pmc Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees
    Valerio Carelli
    Dipartimento di Scienze Neurologiche, Universita di Bologna, Bologna, Italy
    Am J Hum Genet 78:564-74. 2006
    ..The survey of the two sites in 12 of the Brazilian subjects revealed triplasmy in most cases, but there was no evidence of the tetraplasmy that would be expected in the case of mtDNA recombination...
  27. ncbi request reprint Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy
    Valerio Carelli
    Istituto di Clinica Neurologica, Universita di Bologna, Bologna, Italy
    Biochim Biophys Acta 1588:7-14. 2002
    ....
  28. pmc A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy
    Alfredo A Sadun
    University of Southern California Keck School of Medicine Doheny Eye Institute, Los Angeles, USA
    Trans Am Ophthalmol Soc 100:169-78; discussion 178-9. 2002
    ..We conducted extensive epidemiological, neuro-ophthalmological, psychophysical, and blood examinations on a newly discovered, very large pedigree with molecular analysis showing mtDNA mutation for Leber's hereditary optic neuropathy (LHON)...
  29. doi request reprint A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16
    Valerio Carelli
    Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy
    Hum Mol Genet 20:1893-905. 2011
    ..The identification of a new OPA locus (OPA8) in this pedigree demonstrates further genetic heterogeneity in DOA, and our results indicate that the pathogenesis may still involve mitochondria...
  30. doi request reprint The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization
    Anna Maria Porcelli
    Dipartimento di Biologia Evoluzionistica Sperimentale, Universita di Bologna, Bologna 40126, Italy
    Hum Mol Genet 19:1019-32. 2010
    ....
  31. pmc Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions
    Leonardo Caporali
    IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy
    Biochim Biophys Acta 1832:445-52. 2013
    ..Peculiar to this mutation is the distribution of the brainstem lesions, with sparing of the striatum in both patients...
  32. pmc Neuron-specific enolase is elevated in asymptomatic carriers of Leber's hereditary optic neuropathy
    Kenneth M Yee
    Doheny Eye Institute, Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA
    Invest Ophthalmol Vis Sci 53:6389-92. 2012
    ..We hypothesize that increased levels of blood NSE may characterize LHON carriers as a biomarker of ongoing RGC stress...
  33. doi request reprint Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy
    Alfredo A Sadun
    Doheny Eye Institute, Department of Ophthalmology, USC Keck School of Medicine, 1450 San Pablo St, Los Angeles, CA 90089 0228, USA
    Arch Neurol 69:331-8. 2012
    ..To evaluate the safety and efficacy of a new therapeutic agent, EPI-743, in Leber hereditary optic neuropathy (LHON) using standard clinical, anatomic, and functional visual outcome measures...
  34. ncbi request reprint Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium
    Anna Ghelli
    Dipartimento di Biologia Evoluzionistica Sperimentale, Universita di Bologna, Italy
    J Biol Chem 278:4145-50. 2003
    ..In conclusion, LHON cybrid cells forced by the reduced rate of glycolytic flux to utilize oxidative metabolism are sensitized to an apoptotic death through a mechanism involving mitochondria...
  35. ncbi request reprint Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy
    Maria Lucia Valentino
    Dipartimento di Scienze Neurologiche, Universita di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy
    Ann Neurol 51:774-8. 2002
    ....
  36. ncbi request reprint Leber hereditary optic neuropathy possibly triggered by exposure to tire fire
    Ruben N Sanchez
    Department of Ophthalmology, Doheny Eye Institute, University of Southern California, Keck School of Medicine, Los Angeles, California, USA
    J Neuroophthalmol 26:268-72. 2006
    ..All three had been exposed to smoke from two large rubber tire fires within the previous 24 months, suggesting the possibility of an epigenetic triggering factor...
  37. pmc Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?
    Valerio Carelli
    Dipartimento di Scienze Neurologiche, Alma Mater Studiorum University of Bologna, Bologna, Italy
    Environ Health Perspect 115:113-5. 2007
    ..Investigation of precipitating environmental/occupational (and additional genetic) factors could be relevant for prevention...
  38. pmc Axonal degeneration in peripheral nerves in a case of Leber hereditary optic neuropathy
    Lilit Mnatsakanyan
    Doheny Eye Institute, Department of Ophthalmology, University of Southern California, Los Angeles, California 90033, USA
    J Neuroophthalmol 31:6-11. 2011
    ..We investigated possible qualitative and quantitative histological changes in the peripheral nerve of a patient with LHON as compared to normal controls...
  39. pmc Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy
    Carla Giordano
    Dipartimento di Medicina Sperimentale e Patologia, Sapienza, Universita di Roma, 00161 Rome, Italy
    Brain 134:220-34. 2011
    ..Our results strongly support a metabolic basis for the unexplained male prevalence in Leber's hereditary optic neuropathy and hold promises for a therapeutic use for oestrogen-like molecules...
  40. doi request reprint Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations
    Raffaele Lodi
    MR Spectroscopy Unit, Department of Internal Medicine, Aging, and Nephrology, University of Bologna, Bologna, Italy
    Arch Neurol 68:67-73. 2011
    ..To assess whether impaired energy metabolism in skeletal muscle is a hallmark feature of patients with dominant optic atrophy due to several different mutations in the OPA1 gene...
  41. doi request reprint Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss
    Fred N Ross-Cisneros
    Doheny Eye Institute and Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA
    Mitochondrion 13:841-5. 2013
    ..This arrangement of axonal degeneration, involving primarily the papillomacular bundle, closely resembled LHON and other mitochondrial optic neuropathies, supporting that mitochondrial dysfunction underlies its pathogenesis. ..
  42. doi request reprint Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options
    Valerio Carelli
    Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy
    Curr Opin Neurol 26:52-8. 2013
    ..We review the recent advances in animal models generated to study the complexities of mitochondrial optic neuropathies and the therapeutic strategies proposed for these disorders...
  43. ncbi request reprint Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies
    Valerio Carelli
    Doheny Eye Institute, USC Keck School of Medicine, DVRC 311, 1355 San Pablo Street, Los Angeles, CA 90033, USA
    Neurochem Int 40:573-84. 2002
    ..Histological evidence of myelin pathology in LHON also suggests a role for oxidative stress, possibly affecting the oligodendrocytes of the optic nerves...
  44. ncbi request reprint First application of extremely high-resolution magnetic resonance imaging to study microscopic features of normal and LHON human optic nerve
    Alfredo A Sadun
    Department of Ophthalmology, Doheny Eye Institute, Keck USC School of Medicine, Los Angeles, California 90033, USA
    Ophthalmology 109:1085-91. 2002
    ..To apply new methods in magnetic resonance imaging (MRI) in resolving the histoarchitecture of the human optic nerve obtained from normal individuals and a Leber's hereditary optic neuropathy (LHON) case...
  45. ncbi request reprint Leber's Hereditary Optic Neuropathy
    Alfredo A Sadun
    Thornton Professor of Vision, Departments of Ophthalmology and Neurosurgery, Doheny Eye Institute and Keck USC School of Medicine, Los Angeles, CA, 90033, USA
    Curr Treat Options Neurol 13:109-17. 2011
    ..Other therapeutic options are under scrutiny, including gene therapy, agents increasing mitochondrial biogenesis, and anti-apoptotic drugs...
  46. pmc Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors
    Giuseppe Gasparre
    Unità di Genetica Medica, Policlinico Universitario S Orsola Malpighi, University of Bologna, 40126 Bologna, Italy
    Proc Natl Acad Sci U S A 104:9001-6. 2007
    ..We conclude that disruptive mutations in complex I subunits are markers of thyroid oncocytic tumors...
  47. ncbi request reprint Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process
    Steven R Danielson
    Department of Molecular Biosciences, University of California Davis, Davis, CA 95616, USA
    Brain 128:1026-37. 2005
    ..If these results are confirmed in patient tissues, aldose reductase inhibitors could have some therapeutic value for LHON...
  48. ncbi request reprint Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III
    Elena Bonora
    Unità di Genetica Medica, Policlinico Universitario S Orsola Malpighi, Italy
    Cancer Res 66:6087-96. 2006
    ..UC1 is due to a combined complex I/III defect associated with mtDNA mutations, as proven by the transfer of the defective energetic phenotype with the mitochondrial genome into the cybrids...
  49. pmc Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion
    Carla Giordano
    Dipartimento di Medicina Sperimentale, Sapienza, Universita di Roma, Roma, Italy
    Am J Pathol 173:1120-8. 2008
    ....
  50. ncbi request reprint Mitochondrial disorders
    Massimo Zeviani
    Unit of Molecular Neurogenetics, National Institute of Neurology C Besta, Milan, Italy
    Curr Opin Neurol 16:585-94. 2003
    ..The field of mitochondrial medicine is evolving fast. After more than 10 years of investigation into mitochondrial DNA defects, a new impulse is now due to progress in three main areas of research...
  51. ncbi request reprint Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy
    Maura Floreani
    Department of Pharmacology and Anesthesiology, Pharmacology Section, University of Padova, Italy
    FEBS J 272:1124-35. 2005
    ..This is magnified by stressful conditions such as exposure to galactose...
  52. ncbi request reprint OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
    Patrizia Amati-Bonneau
    Département de Biochimie et Génétique, Centre Hospitalier Universitaire d Angers, Angers, France
    Brain 131:338-51. 2008
    ..Our results show that certain OPA1 mutations exert a dominant negative effect responsible for multi-systemic disease, closely related to classical mitochondrial cytopathies, by a mechanism involving mtDNA instability...
  53. ncbi request reprint Mitochondrial disorders
    Massimo Zeviani
    Unit of Molecular Neurogenetics, Institute of Neurology C Besta, Foundation IRCCS, Milan, Italy
    Curr Opin Neurol 20:564-71. 2007
    ..In this review we highlight the most recent advances in the field, including the characterization of new disease genes, new physiopathological insights, and the role of mitochondrial dysfunction in neurodegeneration...
  54. ncbi request reprint Nuclear genes in mitochondrial disorders
    Massimo Zeviani
    Division of Molecular Neurogenetics, National Neurological Institute Carlo Besta, via Temolo 4, 20126 Milan, Italy
    Curr Opin Genet Dev 13:262-70. 2003
    ..In addition, new strategies - based on transcriptome and proteome analysis, and functional complementation assays - have been applied successfully to mitochondrial medicine...
  55. ncbi request reprint Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis
    Steven R Danielson
    Department of Molecular Biosciences, University of California Davis, School of Veterinary Medicine, Davis, California 95616, USA
    J Biol Chem 277:5810-5. 2002
    ..These data indicate that the most common and severe LHON pathogenic mutations 11778 and 3460 predispose cells to apoptosis, which may be relevant for the pathophysiology of cell death in LHON, and potential therapy...
  56. ncbi request reprint Pathogenesis of retinal ganglion cell death in Leber hereditary optic neuropathy (LHON): possible involvement of mitochondria, light and glutamate
    Simone Beretta
    Mitochondrion 6:102-3. 2006
  57. ncbi request reprint Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine
    Carla Giordano
    Dipartimento di Medicina Sperimentale e Patologia, Universita di Roma La Sapienza, Rome, Italy
    Gastroenterology 130:893-901. 2006
    ..Our study is aimed to define the molecular basis of gastrointestinal dysmotility in a case of MNGIE...
  58. pmc Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage
    Celine Perier
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 102:19126-31. 2005
    ..This molecular scenario may have far-reaching implications for the development of effective neuroprotective therapies for these incurable illnesses...
  59. ncbi request reprint Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy
    John Guy
    Department of Ophthalmology, Neuro Opthalmology Service, University of Florida College of Medicine, Gainesville, FL 32610, USA
    Ann Neurol 52:534-42. 2002
    ..Restoration of respiration by allotopic expression opens the door for gene therapy of Leber Hereditary Optic Neuropathy...
  60. ncbi request reprint Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids
    Alessandra Baracca
    Dipartimento di Biochimica, University of Bologna, Italy
    Arch Neurol 62:730-6. 2005
    ..Leber hereditary optic neuropathy (LHON) is a maternally inherited form of central vision loss associated with mitochondrial DNA point mutations that affect the ND subunits of complex I...
  61. ncbi request reprint Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines
    Simone Beretta
    Department of Neuroscience and Biomedical Technologies, University of Milano Bicocca, San Gerardo Hospital, Monza, MI, Italy
    Brain 127:2183-92. 2004
    ..This observation is particularly relevant since EAAT1 is the major means of glutamate removal in the inner retina and this prevents retinal ganglion cells being damaged as a result of excitotoxicity...
  62. ncbi request reprint X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients
    Elena 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...
  63. ncbi request reprint Mitochondrial function and dysfunction within the optic nerve
    Alfredo A Sadun
    Arch Ophthalmol 121:1342-3. 2003
  64. ncbi request reprint Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy
    Federico Sadun
    Ospedale S Giovanni Evangelista, Tivoli, Italy
    Am J Ophthalmol 137:271-7. 2004
    ..To report the ophthalmologic characteristics of a newly identified seven-generation pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy consisting of 328 living individuals, 111 of whom are maternally related...
  65. ncbi request reprint Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report
    Piero Barboni
    Centro di Oftalmologia Salus, via Saffi 4H, 40131 Bologna, Italy
    Graefes Arch Clin Exp Ophthalmol 242:878-80. 2004
    ..To describe the ocular features of a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) due to a homozygous G1443A mutation in the thymidine-phosphorylase gene...
  66. pmc The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool
    Alessandro Achilli
    Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
    Am J Hum Genet 75:910-8. 2004
    ..The survey revealed that the previously reported excess of H among these families is caused entirely by H3 and is due to a major, probably nonrecent, founder event...
  67. ncbi request reprint Optic nerve structure in healthy subjects
    Giacomo Savini
    Arch Ophthalmol 124:1507; author reply 1508-9. 2006
  68. ncbi request reprint Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy
    Dora Fix Ventura
    Department of Experimental Psychology, University of Sao Paulo, Sao Paulo, Brazil
    Invest Ophthalmol Vis Sci 48:2362-70. 2007
    ..However, only a subset of the mutation carriers becomes affected, with a higher penetrance in males. This study was conducted to investigate chromatic losses in asymptomatic carriers of the LHON mutation...
  69. ncbi request reprint Chromatic and luminance contrast sensitivities in asymptomatic carriers from a large Brazilian pedigree of 11778 Leber hereditary optic neuropathy
    Dora Fix Ventura
    Department of Experimental Psychology, University of Sao Paulo, Sao Paulo, Brazil
    Invest Ophthalmol Vis Sci 46:4809-14. 2005
    ....
  70. ncbi request reprint Relative post-mortem sparing of afferent pupil fibers in a patient with 3460 Leber's hereditary optic neuropathy
    Swaraj Bose
    Department of Ophthalmology, 118 Med Surge I, University of California Irvine, Irvine, CA 92697 4375, USA
    Graefes Arch Clin Exp Ophthalmol 243:1175-9. 2005
    ..Relative sparing of the pupillary reflexes in patients with leber's hereditary optic neuropathy (LHON) has been observed clinically. This study sought to test histologically whether retino-pupillary fibers are spared in LHON...
  71. ncbi request reprint Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians
    Daniele Ghezzi
    Unit of Molecular Neurogenetics, National Neurological Institute, Carlo Besta, Milan, Italy
    Eur J Hum Genet 13:748-52. 2005
    ..Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD...
  72. pmc Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach
    Anna Genasetti
    Dipartimento di Scienze Biomediche Sperimentali e Cliniche, via J H Dunant 5, 21100 Varese, Italy
    J Mol Diagn 9:538-45. 2007
    ..01%) on the basis of in vitro calibration, thus rendering the TaqMan assay suitable for the diagnostic analysis of heteroplasmic load in mtDNA-related disorders...
  73. pmc Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    Gavin 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...
  74. ncbi request reprint X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy
    Gavin Hudson
    Mitochondrial Research Group, Newcastle University, UK
    Mol Vis 13:2339-43. 2007
    ..Small studies have failed to detect dramatic skewed X-inactivation in women transmitting LHON mutations. However, segregation analyses predicted skewing only in a proportion of women, which would not have been detected in these studies...
  75. doi request reprint Retinal nerve fiber layer thickness in nonarteritic anterior ischemic optic neuropathy: OCT characterization of the acute and resolving phases
    Costantino Bellusci
    Centro Salus, via Saffi 4 H, 40131, Bologna, Italy
    Graefes Arch Clin Exp Ophthalmol 246:641-7. 2008
    ..To evaluate longitudinal changes in retinal nerve fiber layer (RNFL) thickness in patients with nonarteritic anterior ischemic optic neuropathy (NAION) using optical coherence tomography (OCT)...
  76. doi request reprint Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy
    Suma P Shankar
    Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA
    Ophthalmic Genet 29:17-24. 2008
    ..00 (P = 0.005) and a maximum two-point non-parametric linkage score of 10.12, (P = 0.003) for marker DXS984 (Xq27.1). These results suggest genetic heterogeneity for X-linked modifiers of LHON...
  77. ncbi request reprint Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations
    Giacomo Savini
    Centro di Oftalmologia Salus, Bologna, Italy
    Ophthalmology 112:127-31. 2005
    ..To study retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (OCT) in unaffected carriers with Leber's hereditary optic neuropathy (LHON) mutations...
  78. ncbi request reprint Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy
    Piero Barboni
    Centro di Oftalmologia Salus, Bologna, Italy
    Ophthalmology 112:120-6. 2005
    ..To study retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (StratusOCT) in patients with Leber's hereditary optic neuropathy (LHON)...
  79. ncbi request reprint Detection and quantification of retinal nerve fiber layer thickness in optic disc edema using stratus OCT
    Giacomo Savini
    Centro Salus, Bologna, Italy
    Arch Ophthalmol 124:1111-7. 2006
    ..To investigate the ability of optical coherence tomography (OCT) to assess changes in retinal nerve fiber layer (RNFL) thickness in optic disc edema...