Research Topics
Genomes and Genes
| Massimo ZevianiSummaryAffiliation: Istituto Nazionale Neurologico Carlo Besta Country: Italy Publications
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Detail Information
Publications
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cellsF Invernizzi
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute C Besta, Milan, Italy
Mitochondrion 12:328-35. 2012..Results demonstrate that first level screening based on microscale oxygraphy is more sensitive, cheaper and rapid than spectrophotometry for the biochemical evaluation of cells from patients with suspected mitochondrial disorders...
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...- OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shapeMassimo Zeviani
Unit of Molecular Neurogenetics, Foundation Istituto Neurologico Carlo Besta, Via Temolo 4 - 20126 Milano, Italy
Brain 131:314-7. 2008 - Mitochondrial disordersMassimo Zeviani
Division of Molecular Neurogenetics, Istituto Nazionale Neurologico C Besta, Via Celoria 11 20133 Milan, Italy
Brain 127:2153-72. 2004..This review describes human genetic diseases associated with mtDNA and nuclear DNA mutations leading to impaired OXPHOS... - Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factorDaniele Ghezzi
Division of Molecular Neurogenetics, The Carlo Besta Neurological Institute Foundation, Istituto di Ricovero e Cura a Carattere Scientifico, via Temolo 4, 20126, Milan, Italy
Am J Hum Genet 86:639-49. 2010.... 
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathyValeria Tiranti
Pierfranco and Luisa Mariani Center for Research on Children s Mitochondrial Disorders, Institute of Neurology Carlo Besta Istituto di Ricovero e Cura a Carattere Scientifico Foundation, Milan, Italy
Nat Med 15:200-5. 2009..Therefore, ETHE1 is a mitochondrial sulfur dioxygenase involved in catabolism of sulfide that accumulates to toxic levels in ethylmalonic encephalopathy...- Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout miceCarlo Viscomi
Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute C Besta, Milan, Italy
Hum Mol Genet 18:12-26. 2009..Coincidental with the onset of FSGS, there was hardly any mtDNA left in the glomerular tufts. These results demonstrate that Mpv17 controls mtDNA copy number by a highly tissue- and possibly cytotype-specific mechanism... - Identification of novel mutations in five patients with mitochondrial encephalomyopathyLucia Valente
IRCCS Foundation Neurological Institute C Besta, Milan, Italy
Biochim Biophys Acta 1787:491-501. 2009..Altogether, these data indicate that mtDNA analysis must become part of the routine screening for mitochondrial disorders... - FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiencyDaniele Ghezzi
Division of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C Besta, 20126 Milan, Italy
Am J Hum Genet 83:415-23. 2008..The corresponding protein is localized in the mitochondrial inner compartment. Preliminary data indicate that FASTKD2 plays a role in mitochondrial apoptosis... - Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequenceDaniele Ghezzi
Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy
Hum Mol Genet 18:1058-64. 2009..We found no difference in import efficiency and protein maturation between wild-type and mutant MR-1 variants. These results indicate that PNKD is due to a novel disease mechanism based on a deleterious action of the MTS... - Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosisDaniele Ghezzi
Unit of Molecular Neurogenetics, Fondazione IRCCS, Milan, Italy
Am J Hum Genet 90:1079-87. 2012..The respiratory yeast phenotype was dramatically worsened in stress conditions and in the presence of a paromomycin-resistant (P(R)) mitochondrial rRNA mutation. Lastly, in vivo mtDNA translation was impaired in the mutant yeast strains... - Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathyPaola Arzuffi
Unit of Molecular Neurogenetics, The Foundation Carlo Besta Institute of Neurology IRCCS, Milan, Italy
Neuromuscul Disord 22:50-5. 2012..These findings are consistent with an unconventional pathogenic mechanism causing the tandem duplication to interfere with the maturation of the mitochondrial tRNA(Phe) transcript... - Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathyIvano Di Meo
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for Research on Children s Mitochondrial Disorders, Institute of Neurology Carlo Besta IRCCS Foundation, Milan, Italy
Antioxid Redox Signal 15:353-62. 2011.... - Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutationsAntonella Spinazzola
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center, Study of Children s Mitochondrial Disorders, C Besta Neurological Institute Foundation, Milano, Italy
Arch Neurol 65:1108-13. 2008..Autosomal recessive mutations in MPV17 (OMIM *137960) have been identified in the hepatocerebral form of mitochondrial DNA depletion syndrome (MDS)... - Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout miceCarlotta Dell'agnello
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, Milano, Italy
Hum Mol Genet 16:431-44. 2007.... - Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)Erika Fernandez-Vizarra
Division of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders of Infancy and Childhood, National Institute of Neurology C Besta, Milan, Italy
J Med Genet 44:173-80. 2007..Subjects and.. - Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathyIvano Di Meo
Unit of Molecular Neurogenetics, The Foundation Carlo Besta Institute of Neurology IRCCS, Milan, Italy
EMBO Mol Med 4:1008-14. 2012.... - In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axisCarlo Viscomi
Unit of Molecular Neurogenetics, The Foundation Carlo Besta Institute of Neurology IRCCS, Milan, Italy
Cell Metab 14:80-90. 2011..These results open new perspectives for therapy of mitochondrial disease... - How do human cells react to the absence of mitochondrial DNA?Rossana Mineri
Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute C Besta, Milan, Italy
PLoS ONE 4:e5713. 2009.... - Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathyEdoardo Malfatti
Unit of Molecular Neurogenetics, Neurological Institute C Besta Foundation IRCCS, via Libero Temolo 4, 20126 Milano, Italy
Brain 130:1894-904. 2007..In our experience ND gene mutations are relatively common in CI-defective mitochondrial encephalopathy of both children and adults... - Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTuLucia Valente
Pierfranco and Luisa Mariani Center for Research on Children s Mitochondrial Disorders, Division of Molecular Neurogenetics, National Neurological Institute Carlo Besta, Milano, Italy
Am J Hum Genet 80:44-58. 2007.... - Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island populationMarianna Bugiani
Division of Molecular Neurogenetics, IRCCS Neurological Institute C Besta, Milano, Italy
Am J Med Genet A 146:2221-6. 2008..All patients were homozygous for a novel intragenic COH1 deletion spanning exon 6 to exon 16, suggesting a founder effect. The discovery of this mutation has made carrier detection and prenatal diagnosis possible in this population... - Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiologyDaniele Ghezzi
Carlo Besta Institute of Neurology, Milan, Italy
Adv Exp Med Biol 748:65-106. 2012..We present an overview on the hypothesized assembly processes of the different MRC complexes, focusing on known assembly factors and their clinical importance... - Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathyCarlo Viscomi
The Foundation Carlo Besta Institute of Neurology, Milan, Italy
Nat Med 16:869-71. 2010..The same dual treatment caused marked clinical improvement in five affected children, with hardly any adverse or side effects... - MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletionAntonella Spinazzola
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, Milan 20126, Italy
Nat Genet 38:570-5. 2006.... - The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complexLucia Valente
Unit of Molecular Neurogenetics, IRCCS Foundation, Neurological Institute C Besta, 20126 Milano, Italy
Biochim Biophys Acta 1792:791-5. 2009..This is the first analysis on the molecular mechanism of a mtDNA translation defect due to a nuclear gene mutation... - MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit ICostanza Lamperti
Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico Carlo Besta IRCCS, via Temolo 4, 20126 Milano, Italy
Neuromuscul Disord 22:990-4. 2012..Q232K aminoacid change. Analysis on transmitochondrial cybrids demonstrated that the mutation is indeed associated with COX deficiency, i.e. pathogenic... - Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and fliesDaniele Ghezzi
Unit of Molecular Neurogenetics, The Foundation Carlo Besta Institute of Neurology, Milan, Italy
Nat Genet 43:259-63. 2011..TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies... - SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyDaniele Ghezzi
Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for Study of Children s Mitochondrial Disorders, Foundation IRCCS Neurological Institute C Besta, Milan, Italy
Nat Genet 41:654-6. 2009..SDHAF1 is the first bona fide SDH assembly factor reported in any organism... - Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and ItaliansAntonella Spinazzola
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, C Besta Neurological Institute Foundation, via Temolo 4, 20126 Milano, Italy
Neuromuscul Disord 18:315-8. 2008..Complete discordance between Italian and Navajo haplotypes rules out the former hypothesis, suggesting that the mutation occurred independently in the two populations... - Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonismFederica Invernizzi
Unit of Molecular Neurogenetics, Pierfranco e Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, C Besta Neurological Institute Foundation IRCCS, Milan, Italy
Neuromuscul Disord 18:460-4. 2008..These observations support the hypothesis that mtDNA dysfunction is engaged in the pathogenesis of idiopathic Parkinson's disease... - 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... - Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaAGianfrancesco Ferrari
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Institute of Neurology, Milano, Italy
Brain 128:723-31. 2005.... - Disorders of nuclear-mitochondrial intergenomic signalingAntonella Spinazzola
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute, Milan, Italy
Gene 354:162-8. 2005.... - A novel homozygous mutation in SUCLA2 gene identified by exome sequencingCostanza Lamperti
Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, via Temolo 4, 20126 Milan, Italy
Mol Genet Metab 107:403-8. 2012.... - Disorders of nuclear-mitochondrial intergenomic communicationAntonella Spinazzola
Unit of Molecular Neurogenetics, C Besta Neurological Institute Foundation IRCCS, via Libero Temolo 4, Milano, 20126, Italy
Biosci Rep 27:39-51. 2007..Mutations in any of these factors may alter the cross-talk between the two genomes and cause diseases that affect mtDNA integrity or expression, being inherited as mendelian traits... - Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutationAntonella Spinazzola
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute C. Besta, via Temolo 4, 21033 Milan, Italy
Neuromuscul Disord 14:815-7. 2004..Analysis of the mutation load on single muscle fibres showed significant segregation of the 5698G-->A with COX-depleted fibres. These results indicate that the 5698G-->A is pathogenic... - Effects of riboflavin in children with complex II deficiencyMarianna Bugiani
Department of Child Neurology, Istituto Nazionale Neurologico C Besta, Milano, Italy
Brain Dev 28:576-81. 2006..Riboflavin supplementation to the growth medium of cultured fibroblasts resulted in a 2-fold increase of complex II activity in patients, but not in controls... - Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutationEttore Salsano
IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133 Milano, Italy
J Neurol Sci 300:165-8. 2011..Finally, our case suggests that common neuroleptic and antidepressant drugs may be clinically efficacious in the management of psychiatric symptoms associated with MIDs... - Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinValeria Tiranti
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy
Am J Hum Genet 74:239-52. 2004..quot; The severe consequences of its malfunctioning indicate an important role of the ETHE1 gene product in mitochondrial homeostasis and energy metabolism... - 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... - Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomesAntonella Spinazzola
Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C Besta, Milano, Italy
Adv Exp Med Biol 652:69-84. 2009..Mutations in any of these factors may alter the cross-talk between the two genomes and cause Mendelian diseases that affect mtDNA integrity or expression... - MR findings in Leigh syndrome with COX deficiency and SURF-1 mutationsLaura Farina
Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milan, Italy
AJNR Am J Neuroradiol 23:1095-100. 2002..These patients die soon, probably because of lower brain stem involvement. Basal ganglial abnormalities are common only in LS non-SURF-1 patients. The absence of putaminal lesions, therefore, does not exclude the diagnosis of LS... - Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathyValeria Tiranti
Pierfranco and Luisa Mariani Center for Research on Children s Mitochondrial Disorders, Unit of Molecular Neurogenetics, Institute of Neurology Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Foundation, Milan, Italy
Cold Spring Harb Perspect Biol 5:a011437. 2013..We will also discuss the options that are now conceivable for preventing genetically driven chronic H(2)S toxicity, taking into account that a complete understanding of the physiopathology of H(2)S has still to be achieved... - Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in miceAlessandro Agostino
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, Istituto Nazionale Neurologico C Besta IRCCS, Milano, Italy
Hum Mol Genet 12:399-413. 2003..Our model constitutes a useful tool to investigate the function of Surf1p, help understand the pathogenesis of Surf1p deficiency in vivo, and evaluate the efficacy of treatment... - 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... - Frequency of DYT1 mutation in early onset primary dystonia in Italian patientsGiovanna Zorzi
Department of Child Neurology, National Neurological Institute C Besta, Milan, Italy
Mov Disord 17:407-8. 2002..7 years), dystonia was generalised in 22 patients and remained segmental in three. Our results indicate the role of DYT1 mutation in Italian patients and confirm clinical and genetic heterogeneity of early-onset primary dystonia... - Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutationsNeil Ashley
Nuffield Department of Obstetrics and Gynaecology, University of Oxford, The Women s Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK
Hum Mol Genet 17:2496-506. 2008..This is consistent with current functional models for eukaryotic DNA polymerases, which alternate between polymerizing and editing modes, as determined by competition between these two active sites for the 3' end of the DNA... - Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletionKarl J Morten
University of Oxford, Nuffield Department of Obstetrics and Gynaecology, The Womens Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK
Mitochondrion 7:386-95. 2007.... - Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex IArcangela Iuso
Department of Medical Biochemistry, Biology, and Physics, University of Bari, Policlinico, Piazza Giulio Cesare, 70124 Bari, Italy
J Biol Chem 281:10374-80. 2006..These are relevant observations for a possible therapeutical strategy in NDUFS1 mutant patients... - Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1Mauro A Zordan
CNR Institute of Biomedical Technology, University of Padova, Padova, Italy
Genetics 172:229-41. 2006..These results indicate important functions for SURF1 specifically related to COX activity and suggest a crucial role of mitochondrial energy pathways in organogenesis and CNS development and function... - Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile caseSimona Orcesi
Department of Child Neurology and Psychiatry, Regional Referral Center for Neuromuscular Disorders in Childhood IRCCS C. Mondino Foundation, University of Pavia, Italy
J Child Neurol 21:79-82. 2006..J Child Neurol 2006;21:79-82)... - Depletion of mtDNA: syndromes and genesSimona Alberio
Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, C Besta Neurological Institute Foundation, IRCCS, Italy
Mitochondrion 7:6-12. 2007.... - Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorderGavin Hudson
Mitochondrial Research Group, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, United Kingdom
Am J Hum Genet 77:1086-91. 2005..This effect is independent of the mtDNA genetic background and explains the variable penetrance and sex bias that characterizes this disorder... - A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and IIIEleonora Lamantea
Division of Biochemistry and Genetics, National Neurological Institute C. Besta via Celoria, 11. 20133 Milan, Italy
Neuromuscul Disord 12:49-52. 2002..Clinical presentation and laboratory findings strongly support the hypothesis that this mutation is the primary cause of the disease in our patient... - Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairmentHoward T Jacobs
Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
Eur J Hum Genet 13:26-33. 2005.... - Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegiaMaria A Graziewicz
Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA
Nat Struct Mol Biol 11:770-6. 2004..The reduced selectivity and catalytic efficiency of the autosomal dominant PEO mutants predict in vivo dysfunction, and the extent of biochemical defects correlates with the clinical severity of the disease... - A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiencyClaudio Bruno
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Italy
J Child Neurol 17:233-6. 2002.... - Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathyLuigi Palmieri
Department of Pharmaco Biology, Laboratory of Biochemistry and Molecular Biology, University of Bari, Italy
Hum Mol Genet 14:3079-88. 2005.... - Mitochondrial disordersMassimo Zeviani
Division of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, 20126 Milan, Italy
Suppl Clin Neurophysiol 57:304-12. 2004..These advances provide both diagnostic tools and new pathogenetic insights in a rapidly expanding area of neurogenetics... - A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndromeMarco Crimi
Dino Ferrari Center, Department of Neurological Sciences, University of Milan, I R C C S Ospedale Maggiore Policlinico, Italy
Neurology 60:1857-61. 2003..The mutation presented a variable degree of heteroplasmy in the patient's tissues. This finding underlines the contribution of mtDNA-encoded complex I subunits in the etiology of complex I deficiency associated with encephalopathy... - Mitochondrial disordersMassimo Zeviani
Divisione di Neurogenetica Molecolare, Istituto Nazionale Neurologico Carlo Besta, via Temolo 4, 20126 Milano, Italy
Curr Neurol Neurosci Rep 3:423-32. 2003..The first successful attempts for gene therapy of some mitochondrial diseases have recently been achieved and will hopefully increase in the near future... - Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylationJoslyn K Brunelle
Department of Medicine, Northwestern University Medical School, Chicago, Illinois 60611, USA
Cell Metab 1:409-14. 2005..These findings provide genetic evidence that oxygen sensing is dependent on mitochondrial-generated reactive oxygen species (ROS) but independent of oxidative phosphorylation... - 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... - Systematic identification of human mitochondrial disease genes through integrative genomicsSarah Calvo
Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Nat Genet 38:576-82. 2006..The integrative approach promises to better define the role of mitochondria in both rare and common human diseases... - Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stabilityFlavia Fontanesi
Department of Genetics Anthropology Evolution, University of Parma, 43100 Parma, Italy
Hum Mol Genet 13:923-34. 2004..cerevisiae is a suitable in vivo model to study the pathogenicity of the human ANT1 mutations and the pathophysiology leading to impairment of oxidative phosphorylation and damage of mtDNA integrity, as found in adPEO... - Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) geneVincenza Fetoni
Unit of Neurology, Public Health Hospital, Melegnano Milan, Italy
Neuromuscul Disord 14:723-6. 2004..Investigation on several family members showed a correlation between mutation load and clinical severity. This is the second report documenting the association of lower motor neurone involvement with a specific mtDNA... - Risk of developing a mitochondrial DNA deletion disorderPatrick F Chinnery
Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
Lancet 364:592-6. 2004..Many patients with mtDNA disease harbour a single pathogenic mtDNA deletion, but the risk factors for new cases and disease recurrence are not known... - Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genesLiya Wang
Department of Molecular Bioscience, Section of Veterinary Medical Biochemistry, SLU, The Biomedical Centre, P O Box 575, SE 751 23 Uppsala, Sweden
Mol Genet Metab 84:75-82. 2005..5% for dGK as compared to the wild-type enzymes. Altered competition between dCyd and dThd was observed for the T77M mutant. The residual activities of the two mitochondrial enzymes correlated directly with disease development... - Human mitochondrial complex I assembly is mediated by NDUFAF1Rutger O Vogel
Department of Paediatrics, Radboud University Nijmegen Medical Centre, Netherlands
FEBS J 272:5317-26. 2005..Based on these data, we propose that NDUFAF1 is an important protein for the assembly/stability of complex I... - 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... - Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalancesNeil Ashley
Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Level 3, Women s Centre, The John Radcliffe Hospital, Oxford OX3 9DU, UK
Hum Mol Genet 16:1400-11. 2007..Because deviations from the normal concentrations of dNTPs are known to be mutagenic, we suggest that intramitochondrial nucleotide imbalance could underlie the multiple mtDNA mutations observed in these patients... - The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in EuropeKate Craig
Brain 130:E69; author reply E70. 2007 - 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The NetherlandsPatrick F Chinnery
Mitochondrial Research Group and Institutes of Neuroscience and Human Genetics, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
Neuromuscul Disord 18:259-67. 2008 - 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... - Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathyErika Fernandez-Vizarra
Department of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C Besta, Milano, Italy
Hum Mol Genet 16:1241-52. 2007..We have also shown that BCS1L is contained within a high-molecular-weight supramolecular complex which is clearly distinct from complex III intermediates... - POLG1 mutations cause a syndromic epilepsy with occipital lobe predilectionBernt A Engelsen
Institute of Clinical Medicine, University of Bergen, Haukeland University Hospital, Bergen, Norway
Brain 131:818-28. 2008..All patients developed status epilepticus and 11 patient deaths were, all related to prolonged convulsive status epilepticus, including two with liver failure apparently precipitated by treatment with sodium valproate... - PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrumRoberta Marongiu
IRCCS CSS Mendel Institute, Rome, Italy
Hum Mutat 29:565. 2008..Hence, their significance should be kept distinct from that of homozygous/compound heterozygous mutations, that cause parkinsonism inherited in a mendelian fashion... - Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humansEnrico Baruffini
Department of Genetics, Biology of Microorganisms, Anthropology, Evolution, University of Parma, Italy
Hum Mol Genet 15:2846-55. 2006..Therefore, an increase of the mitochondrial dNTP pool and/or a decrease of reactive oxygen species can prevent the mtDNA damage induced by pol gamma mutations in yeast and, possibly, in humans... - The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 casesCharalampos Tzoulis
Department of Neurology, Institute of Clinical Medicine, University of Bergen and Haukeland University Hospital Bergen, Norway
Brain 129:1685-92. 2006..Compound heterozygotes have a significantly more severe phenotype raising the possibility of a dominant negative effect... - Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathyGiuliana Galassi
Department of Neuroscience, University of Modena, Modena, Italy
Neuromuscul Disord 18:465-70. 2008..This complex phenotype is the result of mutations in two distinct proteins, ANT1 and PolgammaA, which cause additive, deleterious effects on mtDNA maintenance and integrity... - Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's diseaseRoberta Marongiu
IRCCS CSS, Mendel Institute, Rome
Mov Disord 21:1232-5. 2006..2%. All presented a typical phenotype with variable onset and shared the common ancestral haplotype. Mutation frequency raised from 1.2% in early onset PD to 4.0% in late onset PD... - Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath
Metabolic Diseases Centre, Munich-Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing Munich, Germany
Brain 129:1674-84. 2006..1399G-->A (A467T) is common in children, but complete POLG1 sequencing is required to identify multiple mutations that can have complex implications for genetic counselling... - 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... - Stroke due to mitochondrial disorders in Saudi childrenMustafa A Salih
Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia
Saudi Med J 27:S81-90. 2006..To report on the clinical and biochemical features of patients who presented with stroke due to mitochondrial disorders amongst a prospective and retrospective cohort of Saudi children... - 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....