Research Topics
Genomes and Genes
| S DiMauroSummaryAffiliation: Columbia University Country: USA Publications
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Publications
Approaches to the treatment of mitochondrial diseasesSalvatore DiMauro
Department of Neurology, Columbia University Medical Center, 4 420 College of Physicians and Surgeons, 630 West 168th Street, New York, New York 10032, USA
Muscle Nerve 34:265-83. 2006..Preventive therapy through genetic counseling and prenatal diagnosis is becoming increasingly important for nuclear DNA-related disorders...- Mitochondrial myopathiesSalvatore DiMauro
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Curr Opin Rheumatol 18:636-41. 2006..In this review, I will give the latest information on disorders affecting predominantly or exclusively skeletal muscle... - The many clinical faces of cytochrome c oxidase deficiencySalvatore DiMauro
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Adv Exp Med Biol 748:341-57. 2012..Onset is generally in infancy and survival into adolescence or adult life is infrequent. The most common neurological disorder is Leigh syndrome, either alone or associated with cardiopathy, hepatopathy, or nephropathy... - Progress and problems in muscle glycogenosesS DiMauro
Department of Neurology, Columbia University Medical Center, New York, USA
Acta Myol 30:96-102. 2011..By paying more attention to problems than to progress, we aimed to look to the future rather than to the past... - Mitochondrial DNA and diseaseSalvatore DiMauro
Department of Neurology, Columbia University Medical Center, New York, NY, USA
Ann Med 37:222-32. 2005..We then discuss more controversial issues, including the functional or pathological role of mtDNA haplotypes, the pathogenicity of homoplasmic mutations and the still largely obscure pathophysiology of mtDNA mutations... - Mitochondrial medicineSalvatore DiMauro
Department of Neurology, Columbia University, 4 420 College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
Biochim Biophys Acta 1659:107-14. 2004..Novel pathogenetic mechanisms include alterations in the lipid milieu of the inner mitochondrial membrane and mutations in genes controlling mitochondrial motility, fission, and fusion... - Mitochondrial diseasesSalvatore DiMauro
Department of Neurology, 4 420 College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, USA
Biochim Biophys Acta 1658:80-8. 2004.... - Mitochondrial encephalomyopathies: therapeutic approachSalvatore DiMauro
Department of Neurology, Columbia University College of Physicians Surgeons, New York, New York 10032, USA
Ann N Y Acad Sci 1011:232-45. 2004..Preventive therapy through genetic counseling and prenatal diagnosis is still limited for mtDNA-related disorders but is becoming increasingly important for nDNA-related disorders... - Mitochondrial encephalomyopathies: diagnostic approachSalvatore DiMauro
Department of Neurology, Columbia University College of Physicians Surgeons, New York, New York 10032, USA
Ann N Y Acad Sci 1011:217-31. 2004..The ultimate goal is to reach, whenever possible, a definitive molecular diagnosis, which permits rational genetic counseling and a prenatal diagnosis... - Mitochondrial encephalomyopathies: an updateSalvatore DiMauro
Department of Neurology, Columbia University Medical Center, College of Physicians and Surgeons, Room 4 420, 630 West 168th Street, New York, NY 10032, USA
Neuromuscul Disord 15:276-86. 2005.... - Mitochondrial respiratory-chain diseasesSalvatore DiMauro
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, USA
N Engl J Med 348:2656-68. 2003 - Mitochondrial disordersSalvatore DiMauro
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
J Child Neurol 17:3S35-45; discussion 3S46-7. 2002..These defects generally cause autosomal recessive Leigh disease. In this review, the frequency and types of epilepsy (particularly early-onset seizures) are compared according to a genetic classification of the mitochondrial disorders... - Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effectsSalvatore DiMauro
Department of Neurology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, New York 10032, USA
Muscle Nerve 26:597-607. 2002..We conclude that mitochondrial dysfunction does play a crucial role in the aging process of both muscle and brain, but it remains unclear whether mitochondria are the culprits or mere accomplices... - Myophosphorylase deficiency (glycogenosis type V; McArdle disease)S Dimaur
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Curr Mol Med 2:189-96. 2002..Mutations are spread throughout the gene and there is no clear genotype:phenotype correlation. High-protein diet and aerobic exercise are beneficial, and gene therapy appears promising... - Lessons from mitochondrial DNA mutationsS DiMauro
Department of Neurology, 4 420 Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
Semin Cell Dev Biol 12:397-405. 2001..Pathogenesis is only partially explained by the rules of mitochondrial genetics and remains largely uncharted territory. Therapy is still woefully inadequate, but a number of promising approaches are being developed... - Mitochondrial DNA mutations in human diseaseS DiMauro
College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
Am J Med Genet 106:18-26. 2001..We review recent progress in prenatal diagnosis, epidemiology, and in the development of animal models harboring mtDNA mutations... - The expanding phenotype of mitochondrial myopathySalvatore DiMauro
Department of Neurology, Columbia University Medical Center, New York, New York, USA
Curr Opin Neurol 18:538-42. 2005..In this review we provide an update of information regarding disorders that predominantly or exclusively affect skeletal muscle... - A polymorphic polymeraseSalvatore DiMauro
Department of Neurology, Columbia University Medical Center New York, NY, USA
Brain 129:1637-9. 2006 - Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chainS DiMauro
Department of Neurology, Columbia University Medical Center, New York, NY, USA
Semin Fetal Neonatal Med 16:181-9. 2011.... - Pathogenesis and treatment of mitochondrial myopathies: recent advancesS DiMauro
Department of Neurology, Columbia University Medical Center, College of Physicians and Surgeons, New York, NY 10032, USA
Acta Myol 29:333-8. 2010.... - Historical perspective on mitochondrial medicineSalvatore DiMauro
Columbia University Medical Center, College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
Dev Disabil Res Rev 16:106-13. 2010..We hope that this historical review also provides an update on mitochondrial medicine, although we fully realize that the speed of progress in this area makes any such endeavor akin to writing on water... - Metabolic myopathiesSalvatore DiMauro
Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, Room 4 424B, 630 West 168th Street, New York, NY 10032, USA
Curr Rheumatol Rep 12:386-93. 2010..For the mitochondrial myopathies, we discuss the importance of homoplasmic mitochondrial DNA mutations and review the rapid progress made in our understanding of the coenzyme Q(10) deficiencies, which are often treatable... - A history of mitochondrial diseasesSalvatore DiMauro
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
J Inherit Metab Dis 34:261-76. 2011..In each section, I follow a chronological order of the salient discoveries and I show only the portraits of distinguished deceased mitochondriacs and those whose names became eponyms of mitochondrial diseases... - Pathogenesis and treatment of mitochondrial disordersSalvatore DiMauro
Department of Neurology, Columbia University Medical Center, 3 313 Russ Berrie Medical Science Pavilion, New York, NY 10032, USA
Adv Exp Med Biol 652:139-70. 2009..g. boosting ATP production or scavenging ROS), which are inconsistently and incompletely effective, but can be safe and helpful... - Mitochondrial disorders in the nervous systemSalvatore DiMauro
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Annu Rev Neurosci 31:91-123. 2008.... - LAMP-2 deficiency (Danon disease)S Di Mauro
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Acta Myol 26:79-82. 2007 - Muscle glycogenoses: an overviewS Di Mauro
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Acta Myol 26:35-41. 2007 - Mitochondrial diseases: therapeutic approachesSalvatore DiMauro
College of Physicians and Surgeons, Department of Neurology, Columbia University Medical Center, NewYork, NY 10032, USA
Biosci Rep 27:125-37. 2007..Progress in each of these approaches provides some glimmer of hope for the future, although much work remains to be done... - Mitochondrial DNA medicineSalvatore DiMauro
Department of Neurology, Columbia University Medical Center, College of Physicians and Surgeons, New York, NY 10032, USA
Biosci Rep 27:5-9. 2007..Here we review the mitochondrial genetics and the clinical features of the mtDNA-related diseases... - Muscle glycogenosesS DiMauro
Department of Neurology, Columbia University College of Physicians and Surgeons, 4 420 College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
Muscle Nerve 24:984-99. 2001..In some conditions, combined dietary and exercise regimens may be of help, and gene therapy, including recombinant enzyme replacement, is being actively pursued... - Does the patient have a mitochondrial encephalomyopathy?S DiMauro
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
J Child Neurol 14:S23-35. 1999..This knowledge is indispensable for accurate genetic counseling and prenatal diagnosis and is a prerequisite for the development of rational therapies, which are still woefully inadequate... - Mutations in coenzyme Q10 biosynthetic genesSalvatore DiMauro
Department of Neurology, Columbia University Medical Center, New York, New York, USA
J Clin Invest 117:587-9. 2007..Awareness of CoQ10 deficiency is important because individuals with primary or secondary variants may benefit from oral CoQ10 supplementation... - Mutations in mtDNA: are we scraping the bottom of the barrel?S DiMauro
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Brain Pathol 10:431-41. 2000..We review recent progress in prenatal diagnosis and epidemiology. Therapy is still woefully inadequate, but a number of promising approaches are being developed... - Mitochondria in neuromuscular disordersS DiMauro
Department of Neurology, H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, 4 420, 630 West 168th Street, New York, NY 10032, USA
Biochim Biophys Acta 1366:199-210. 1998..Uncertainties about pathogenesis extend to the process of cell death, although excitotoxicity in neurons and apoptosis in muscle seem to have important roles... - A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle diseaseR Fernandez
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Arch Neurol 57:217-9. 2000..To investigate the degree of genetic heterogeneity of myophosphorylase deficiency (McArdle disease) in Spain through molecular studies of 10 new patients... - Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) geneG M Hadjigeorgiou
Department of Neurology, H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Neuromuscul Disord 9:399-402. 1999..Two heterozygous family members for the G97D mutation presented with exercise intolerance and muscle cramps. We describe the first PGAM-M mutation in the Japanese population and confirm that heterozygous individuals can be symptomatic... - Subunit Va of human and bovine cytochrome c oxidase is highly conservedR Rizzuto
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders, Columbia University College of Physicians and Surgeons, New York, NY 10032
Gene 69:245-56. 1988.... - A novel mitochondrial tRNAPhe mutation causes MERRF syndromeM Mancuso
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Neurology 62:2119-21. 2004..This report shows that typical MERRF syndrome is not always associated with tRNA lysine mutations... - Mitochondrial encephalomyopathiesS DiMauro
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, College of Physicians and Surgeons, Columbia University, New York, NY
Arch Neurol 50:1197-208. 1993.... - Reversion of mtDNA depletion in a patient with TK2 deficiencyM R Vila
Department of Neurology, Columbia University College of Physicians and Surgeons New York, NY, USA
Neurology 60:1203-5. 2003..This report extends the phenotypic expression of primary TK2 deficiency and suggests that factors other than TK2 may modify expression of the clinical phenotype in patients with MDS syndrome... - Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutationC M Quinzii
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Neurology 64:539-41. 2005..The authors' observations indicate that CoQ10 deficiency may contribute to the pathogenesis of AOA1... - Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidaseM Zeviani
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders, Columbia University College of Physicians and Surgeons, New York, NY 10032
Gene 65:1-11. 1988.... - A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathyC Bruno
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons, New York 10032, USA
Neuromuscul Disord 9:403-7. 1999..This case broadens the spectrum of mutations in patients with GSD IV and confirms the clinical and molecular heterogeneity of this disease... - The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiencyS Tsujino
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia Presbyterian Medical Center, New York, NY
Am J Hum Genet 52:472-7. 1993..The fifth patient, the only Caucasian, was homozygous for a different point mutation, a C-to-T mutation, converting Arg to Trp (codon 90)... - Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuriaC Bruno
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia Presbyterian Medical Center, New York, NY 10032, USA
Neurology 50:296-8. 1998..DNA analysis showed that the patient was homozygous for a G-to-C substitution at codon 39 of the PFK gene (previously described in an Italian patient) and for the common mutation found in AMP deaminase deficiency... - Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's diseaseS Tsujino
Department of Neurology, Columbia Presbyterian Medical Center, New York, NY 10032, USA
Neuromuscul Disord 6:19-26. 1996..The mutant residue is adjacent to pyridoxal phosphate binding sites and to an active site residue, and the sequence around this mutation is highly conserved in different species... - Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qterM Hirano
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Am J Hum Genet 63:526-33. 1998..We found no evidence to implicate three candidate genes in this region, by using direct sequence analysis for DNA helicase II and by assaying enzyme activities for arylsulfatase A and carnitine palmitoyltransferase... - Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutationF M Santorelli
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University, New York, New York 10032, USA
Pediatr Res 39:914-7. 1996..These findings suggest that the T8993C mutation is less severe than the more common T8993G mutation... - Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)S Tsujino
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia Presbyterian Medical Center, New York, NY 10032
N Engl J Med 329:241-5. 1993..We sequenced complementary DNA in 4 patients and studied genomic DNA by restriction-endonuclease analysis in 40 patients with McArdle's disease... - Cerebral lactic acidosis correlates with neurological impairment in MELASP Kaufmann
Department of Neurology, Columbia University, New York, NY 10032, USA
Neurology 62:1297-302. 2004..CONCLUSIONS: High levels of ventricular lactate, the brain spectroscopic signature of MELAS, are associated with more severe neurologic impairment... - Mitochondrial involvement in Alzheimer's diseaseE Bonilla
Departments of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
Biochim Biophys Acta 1410:171-82. 1999..On the other hand, the role(s) of somatic cell or maternally inherited mtDNA mutations in the pathogenesis of mitochondrial dysfunction in AD are still controversial... - Cerebellar ataxia and coenzyme Q10 deficiencyC Lamperti
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
Neurology 60:1206-8. 2003..Associated symptoms included seizures, developmental delay, mental retardation, and pyramidal signs. These findings confirm the existence of an ataxic presentation of CoQ10 deficiency, which may be responsive to CoQ10 supplementation... - A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathyC Karadimas
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA
J Child Neurol 16:531-3. 2001..This report expands the clinical heterogeneity of the A5814G mutation, which should be considered in the differential diagnosis of hypertrophic cardiomyopathy in childhood... - Mutation screening in patients with isolated cytochrome c oxidase deficiencySabrina Sacconi
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
Pediatr Res 53:224-30. 2003..These data show that heterogeneous clinical phenotypes are associated with COX deficiency, that mutations in mtDNA COX genes are rare, and that mutations in additional genes remain to be identified... - A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's diseaseA L Andreu
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, College of Physicians and Surgeons, New York, NY 10032, USA
Neuromuscul Disord 9:171-3. 1999.... - POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafnessM Mancuso
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Neurology 62:316-8. 2004..These mutations were not detected in 120 healthy control subjects... - Mitochondrial DNA mutations and pathogenesisE A Schon
Department of Neurology, Columbia University, New York, New York 10032, USA
J Bioenerg Biomembr 29:131-49. 1997..This accumulating body of data has begun to reveal some patterns that may be relevant to pathogenesis... - Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene familyS Sakoda
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders, Columbia University College of Physicians and Surgeons, New York, New York 10032
J Biol Chem 263:16899-905. 1988..These results agree with the evolutionary analysis, which indicates that the PGAM-B gene is the progenitor of the PGAM-M gene... - Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly)Y Nishigaki
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Neurology 58:1282-5. 2002..Muscle biopsy showed ragged red fibers and reduced activities of mitochondrial respiratory chain enzyme complexes I, III, and IV. Analysis of mitochondrial DNA revealed a heteroplasmic T10010C mutation in the transfer RNA glycine gene... - Human CoQ10 deficienciesC M Quinzii
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Biofactors 32:113-8. 2008..In many patients with CoQ10 deficiencies, the causative molecular genetic defects remain unknown; therefore, it is likely that mutations in additional genes will be identified as causes of CoQ10 deficiencies... - Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?T H Vu
Department of Neurology and H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University, New York, NY, USA
Hepatology 34:116-20. 2001..Using histochemical, biochemical, and molecular techniques, we found evidence of mtDNA depletion, and we propose that the primary defect in NNH is in the nuclear regulation of mtDNA copy number... - Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiencyS Tsujino
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disease, Department of Neurology, Columbia Presbyterian Medical Center, New York, NY
Am J Hum Genet 54:812-9. 1994.... - Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenesM Hirano
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
Proc Natl Acad Sci U S A 94:14894-9. 1997..We conclude that the observed heteroplasmy is an artifact... - [Mitochondrial encephalopathies: where are we going?]S DiMauro
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, New York, NY, USA
Rev Neurol 28:164-8. 1999..The molecular base of nDNA mutations; 3. The coenzyme Q10 deficiency; 4. Defects of translocases; 5. Defects of mitochondrial protein importation, and 6. Defects of intergemonic signalling... - Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutationsLeonardo Salviati
Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, U S A
Biochem J 363:321-7. 2002..Our data demonstrate that the COX deficiency observed in fibroblasts, myoblasts and myotubes from patients with SCO2 mutations can be restored to almost normal levels by the addition of CuCl(2) to the growth medium... - Mitochondrial mutations: genotype to phenotypeEric A Schon
Department of Neurology, Columbia University Medical School, 630 West 168th Street, New York, NY 10032, USA
Novartis Found Symp 287:214-25; discussion 226-33. 2007..All four categories will be discussed... - The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 casesSara Shanske
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Arch Neurol 65:368-72. 2008..Among these, mutations in the ND5 gene (OMIM 516005) of mitochondrial DNA are important, and the A13513A change has emerged as a hotspot... - A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromesBulent Kurt
Columbia University College of Physicians and Surgeons, 630 W 168th Street, New York, NY 10032, USA
Arch Neurol 67:239-44. 2010..To describe a novel POLG missense mutation (c.3218C>T; p.P1073L) that, in association with 2 previously described mutations, caused an Alpers-like hepatocerebral syndrome in 4 children... - Congenital or late-onset myopathy in patients with the T14709C mtDNA mutationMichelangelo Mancuso
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
J Neurol Sci 228:93-7. 2005..Previously described patients with the same mutation also showed congenital or late-onset myopathy. Diabetes is frequently associated with both phenotypes and is a clinical clue to the molecular diagnosis... - Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutationsStacey K H Tay
Department of Neurology, Columbia University, New York, NY, USA
J Child Neurol 20:670-4. 2005..Likewise, mitochondrial proliferation in muscle (with ragged red fibers) is most unusual in Leigh disease but might be part of an emerging phenotype... - Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathyCigdem Inan Akman
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
J Child Neurol 19:258-61. 2004..This patient's presentation is unusual and suggests an overlap between Pearson's syndrome and Kearns-Sayre syndrome... - Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathiesMassimiliano Filosto
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
Ann Neurol 54:524-6. 2003..We did not observe paternal inheritance in any of our patients... - CoQ10 deficiency diseases in adultsCatarina M Quinzii
Department of Neurology, Columbia University Medical Center, P and S 4 420, 630 West 168th Street, New York, NY 10032, USA
Mitochondrion 7:S122-6. 2007..Mutations in the CoQ10 biosynthetic genes, COQ2 and PDSS2, have been identified in children with the infantile form of CoQ10 deficiency; however, the molecular genetic bases of adult-onset CoQ10 deficiency remains undefined... - Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 geneMichelangelo Mancuso
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
Arch Neurol 60:1007-9. 2003..Mutations in 2 genes involved in deoxyribonucleotide metabolism, the deoxyguanosine kinase gene (DGK) and the thymidine kinase 2 gene (TK2), have been related to this syndrome... - Mitochondrial diseasesTuan H Vu
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
Neurol Clin 20:809-39, vii-viii. 2002..In this article, the authors, we summarize the principles of mitochondrial genetics and discuss the common phenotypes, general diagnostic approach, and possible therapeutic venues for these fascinating disorders... - Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann diseaseLeonardo Salviati
Department of Neurology, Columbia University, New York, NY, USA
Arch Neurol 59:862-5. 2002..Mutations in the SCO2 gene have been associated with fatal cardioencephalomyopathy... - Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trialP Kaufmann
Department of Neurology, Columbia University, New York 10032, USA
Neurology 66:324-30. 2006..To evaluate the efficacy of dichloroacetate (DCA) in the treatment of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)... - Allogeneic stem cell transplantation corrects biochemical derangements in MNGIEM Hirano
Department of Neurology, Columbia University Medical Center, 630 W 168 St, P and S 4 443, New York, NY 10032, USA
Neurology 67:1458-60. 2006..Thus, alloSCT can correct biochemical abnormalities in the blood of patients with MNGIE, but clinical efficacy remains unproven... - Mitochondria and the heartM Hirano
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA
Curr Opin Cardiol 16:201-10. 2001..We describe genetic mitochondrial cardiomyopathies and briefly review mouse models and the mitochondrial theory of presbycardia... - Phase II trial of CoQ10 for ALS finds insufficient evidence to justify phase IIIPetra Kaufmann
Department of Neurology, Clinical Coordinating Center, Columbia University, New York, NY 10032, USA
Ann Neurol 66:235-44. 2009..Our aims were to choose between two high doses of CoQ10 for ALS, and to determine if it merits testing in a Phase III clinical trial... - A novel tRNA(Val) mitochondrial DNA mutation causing MELASKurenai Tanji
Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
J Neurol Sci 270:23-7. 2008..We report here a novel tRNA(Val) mutation in a 37-year-old woman with manifestations of MELAS, and compare her clinicopathological phenotype with other rare cases associated tRNA(Val) mutations... - Therapeutic prospects for mitochondrial diseaseEric A Schon
Department of Neurology, Columbia University Medical Center, New York, NY, USA
Trends Mol Med 16:268-76. 2010..Among these are techniques to upregulate mitochondrial biogenesis, enhance organellar fusion and fission, "shift heteroplasmy" and eliminate the burden of mutant mtDNAs via cytoplasmic transfer... - Myopathy and parkinsonism in phosphoglycerate kinase deficiencyEvangelia Sotiriou
Department of Neurology, Columbia University Medical Center, 3 313 Russ Berrie Medical Science Pavilion, 1150 St Nicholas Avenue, New York, New York 10032, USA
Muscle Nerve 41:707-10. 2010..This case reinforces the concept that PGK deficiency is a clinically heterogeneous disorder and raises the question of a relationship between PGK deficiency and idiopathic juvenile Parkinson disease... - Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b geneMichelangelo Mancuso
Department of Neurology, 4 420 Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
J Neurol Sci 209:61-3. 2003..This mutation fulfills all accepted criteria for pathogenicity... - VMA21 deficiency: a case of myocyte indigestionMichio Hirano
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Cell 137:213-5. 2009..In this issue, Ramachandran et al. (2009) report that mutations in the gene encoding the human homolog VMA21 cause the disease X-linked myopathy with excessive autophagy through an unexpected mechanism... - Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formationWilliam Schubert
Department of Molecular Pharmacology, Albert Einstein College of Medicine, Bronx, New York, USA
Am J Pathol 170:316-33. 2007..Consistent with this hypothesis, skeletal muscle isolated from male Cav-3(-/-) mice did not show any of these abnormalities. As such, this is the first study linking stem cells with the genesis of these intriguing muscle defects... - Protean phenotypic features of the A3243G mitochondrial DNA mutationPetra Kaufmann
Department of Neurology, The Neurological Institute, Columbia University Medical Center, New York, NY 10032, USA
Arch Neurol 66:85-91. 2009.... - Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) geneJorida Coku
Department of Neurology, Columbia University Medical Center, New York, NY, USA
J Neurol Sci 290:166-8. 2010..Sequencing of the 22 tRNA mitochondrial genes is indicated in all unusual neurological syndromes, even in the absence of maternal inheritance... - Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNACharalampos L Karadimas
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
Neuromuscul Disord 12:865-8. 2002..This second patient with G12315A and progressive external ophthalmoplegia confirms the pathogenicity of the mutation and helps to define the correlation between genotype and phenotype... - Amyotrophic lateral sclerosis with ragged-red fibersMichio Hirano
Department of Neurology, Columbia University Medical Center, 3 317 Russ Berrie Medical Science Pavilion, 1150 St Nicholas Ave, New York, NY 10032, USA
Arch Neurol 65:403-6. 2008..Motor neuron diseases (amyotrophic lateral sclerosis [ALS] and spinal muscular atrophy [SMA]) have been rarely associated with mitochondrial respiratory chain defects... - Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNAJacklyn Pancrudo
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4 420 College of Physicians and Surgeons, Columbia University Medical Center, 630 W 168th Street, New York, NY 10032, USA
J Child Neurol 22:858-62. 2007..The mutation was present in accessible tissues from the asymptomatic mother but not from a brother with Asperger syndrome. These data expand the clinical heterogeneity of mutations in this mitochondrial gene... - Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRFAli B Naini
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Arch Neurol 62:473-6. 2005..CONCLUSIONS: These data confirm that ND5 is a genetic hot spot for overlap syndromes, including MELAS and strokelike and myoclonus epilepsy with ragged-red fibers... - Primary coenzyme Q10 deficiency and the brainAli Naini
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Biofactors 18:145-52. 2003..Daily oral administration of CoQ10 led to substantial increases of CoQ10 concentrations only in blood and liver. Of the four regions of one human brain studied, cerebellum again had the lowest CoQ10y concentration... - Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh SyndromeLeonardo Salviati
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA
Am J Med Genet A 128:195-8. 2004..These data confirm that the spectrum of MRI findings in LS is variable and that SURF1 mutations should be considered in patients with encephalomyopathy and COX deficiency even when early MRI findings are negative... - Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNAStacey K H Tay
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
J Child Neurol 20:142-6. 2005..Our data also suggest that urine is a better source of DNA than blood for diagnosis and that multiple tissues should be studied in maternal relatives, especially when the mutation cannot be detected in blood... - Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genesMichelangelo Mancuso
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Arch Neurol 60:1445-7. 2003.... - Medicinal and genetic approaches to the treatment of mitochondrial diseaseEric A Schon
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Curr Med Chem 10:2523-33. 2003..There has been progress with each of these approaches, although much work remains to be done. Finally, a novel approach to treating a specific mitochondrial disorder, MELAS, is presented... - Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gammaMassimiliano Filosto
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Arch Neurol 60:1279-84. 2003..Mutations in POLG can also cause autosomal recessive PEO, which is often associated with multisystemic disorders... - A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndromeYutaka Nishigaki
Department of Neurology, Columbia University College of Physicians and Surgeon, 630 West 168th Street, P and S 4-443, New York, NY 10032, USA
Neuromuscul Disord 13:334-40. 2003..The identification of yet another tRNA(Leu(UUR)) mutation reinforces the concept that this gene is a hot-spot for pathogenic mtDNA mutations... - Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiencyStacey K H Tay
Departments of Neurology, Genetics and Development, and Pathology, Columbia University College of Physicians and Surgeons, 630 W 168th Street, New York, NY 10032, USA
Arch Neurol 61:1935-7. 2004..Despite this progress, the molecular basis of COX deficiency remains elusive in many patients, justifying the identification and screening of additional COX assembly genes, such as COX16, COX19, and PET191... - Early-onset familial parkinsonism due to POLG mutationsGuido Davidzon
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Ann Neurol 59:859-62. 2006..INTERPRETATION: POLG mutations can cause early-onset parkinsonism in the absence of progressive external ophthalmoplegia...
Research Grants
- CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASESalvatore DiMauro; Fiscal Year: 2007....