Research Topics
Species | Valerio CarelliSummaryAffiliation: University of Bologna Country: Italy Publications
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Detail Information
Publications
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993Alessandra 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....- Myelin, mitochondria, and autoimmunity: what's the connection?Valerio Carelli
Neurology 70:1075-6. 2008 
Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two casesV 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...- Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegenerationValerio Carelli
Dipartimento di Scienze Neurologiche, Universita di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy
Biochim Biophys Acta 1658:172-9. 2004.... - Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interactionValerio 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... - Mitochondrial dysfunction as a cause of optic neuropathiesValerio 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.... - Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutationValerio Carelli
Istituto di Clinica Neurologica, Universita di Bologna, Via U Foscolo 7, 40123 Bologna, Italy
Arch Neurol 59:264-70. 2002.... - Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical studyAlfredo A Sadun
Keck USC School of Medicine Doheny Eye Institute, Los Angeles, California, USA
Trans Am Ophthalmol Soc 104:51-61. 2006.... - The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicityAnna 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... - Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathyAlfredo 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)... - The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathyMaria 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... 
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusionClaudia 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...- Retinal ganglion cell neurodegeneration in mitochondrial inherited disordersValerio Carelli
Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, 40123, Bologna, Italy
Biochim Biophys Acta 1787:518-28. 2009.... - Visual system involvement in patients with Friedreich's ataxiaFilippo 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... - Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybridsAnna 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... - Mathematically modeling the involvement of axons in Leber's hereditary optic neuropathyBilly 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... - Leber's hereditary optic neuropathy with childhood onsetPiero 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... - Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophyRaffaele 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... - Apoptotic cell death of cybrid cells bearing Leber's hereditary optic neuropathy mutations is caspase independentClaudia 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... - A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus functionGiuseppe 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... - Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigreesValerio 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... - A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio 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... - Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathyValerio Carelli
Istituto di Clinica Neurologica, , Bologna, Italy
Biochim Biophys Acta 1588:7-14. 2002.... - The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilizationAnna Maria Porcelli
Dipartimento di Biologia Evoluzionistica Sperimentale, Universita di Bologna, Bologna 40126, Italy
Hum Mol Genet 19:1019-32. 2010.... - A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathyAlfredo 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)... - Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesionsLeonardo 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... - Neuron-specific enolase is elevated in asymptomatic carriers of Leber's hereditary optic neuropathyKenneth 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... - Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathyAlfredo 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... - Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathyMaria Lucia Valentino
Dipartimento di Scienze Neurologiche, Universita di Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy
Ann Neurol 51:774-8. 2002.... - Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose mediumAnna 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... - Leber hereditary optic neuropathy possibly triggered by exposure to tire fireRuben 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... - 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... - 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... - Axonal degeneration in peripheral nerves in a case of Leber hereditary optic neuropathyLilit 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... - Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathyCarla 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... - Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutationsRaffaele 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... - The optic nerve: a "mito-window" on mitochondrial neurodegenerationAlessandra 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'... - Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic optionsValerio Carelli
aDepartment of Biomedical and NeuroMotor Sciences DiBiNeM, University of Bologna bIRCCS Istituto di Scienze Neurologiche, Bologna, Italy cDoheny Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA
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... - First application of extremely high-resolution magnetic resonance imaging to study microscopic features of normal and LHON human optic nerveAlfredo A Sadun
Department of Ophthalmology, Doheny Eye Institute, Keck/USC School of Medicine, Los Angeles, California 90033, USA
Ophthalmology 109:1085-91. 2002..Several atrophic lesions, normally visible only by histopathologic examination, were visualized in the Leber's optic nerve. microMRI may eventually permit the in vivo visualization of lesions in or about the optic nerve... - Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathiesValerio 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... - Leber's Hereditary Optic NeuropathyAlfredo 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... - Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and IIIElena 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... - Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybridsAlessandra Baracca
Dipartimento di Biochimica, University of Bologna, Italy
Arch Neurol 62:730-6. 2005..Stratification of the results by mutation suggests that the 11778/ND4 mutation may induce an uncoupling of cybrid respiration, whereas the other 2 mutations impair the oxygen consumption rate... - Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletionCarla Giordano
Dipartimento di Medicina Sperimentale, Sapienza, Universita di Roma, Roma, Italy
Am J Pathol 173:1120-8. 2008.... - Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathyMaura 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... - Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell linesSimone 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... - Bioenergetics of mitochondrial diseases associated with mtDNA mutationsGiorgio Lenaz
Dipartimento di Biochimica G. Moruzzi, , Via Irnerio 48, Bologna 40126, Italy
Biochim Biophys Acta 1658:89-94. 2004.... - Pathogenesis of retinal ganglion cell death in Leber hereditary optic neuropathy (LHON): possible involvement of mitochondria, light and glutamateSimone Beretta
Mitochondrion 6:102-3. 2006 - Mitochondrial disordersMassimo 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... - Nuclear genes in mitochondrial disordersMassimo 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... - Rescue of a mitochondrial deficiency causing Leber Hereditary Optic NeuropathyJohn 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... - Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosisSteven 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... - OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesPatrizia 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... - Mitochondrial disordersMassimo 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... - Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestineCarla 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... - Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNAGianluca Sgarbi
Dipartimento di Biochimica G. Moruzzi, Via Irnerio 48, , 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... - Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damageCeline 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... - Isolation of transcriptomal changes attributable to LHON mutations and the cybridization processSteven 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... - Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumorsGiuseppe 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... - Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathySuma 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... - Detection and quantification of retinal nerve fiber layer thickness in optic disc edema using stratus OCTGiacomo 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... - Optic nerve structure in healthy subjectsGiacomo Savini
Arch Ophthalmol 124:1507; author reply 1508-9. 2006 - 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... - X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathyGavin 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... - Mitochondrial function and dysfunction within the optic nerveAlfredo A Sadun
Arch Ophthalmol 121:1342-3. 2003 - Relative post-mortem sparing of afferent pupil fibers in a patient with 3460 Leber's hereditary optic neuropathySwaraj 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... - Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathyFederico 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... - Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case reportPiero 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... - Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathyDora 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... - 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... - Retinal nerve fiber layer thickness in nonarteritic anterior ischemic optic neuropathy: OCT characterization of the acute and resolving phasesCostantino 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)... - The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene poolAlessandro Achilli
Dipartimento di Genetica e Microbiologia, , 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... - Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathyPiero 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)... - Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutationsGiacomo 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... - Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approachAnna 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... - Chromatic and luminance contrast sensitivities in asymptomatic carriers from a large Brazilian pedigree of 11778 Leber hereditary optic neuropathyDora Fix Ventura
Department of Experimental Psychology, University of Sao Paulo, Sao Paulo, Brazil
Invest Ophthalmol Vis Sci 46:4809-14. 2005.... - Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in ItaliansDaniele 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...