S DiMauro

Summary

Affiliation: Columbia University
Country: USA

Publications

  1. ncbi Approaches to the treatment of mitochondrial diseases
    Salvatore 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
  2. ncbi Mitochondrial myopathies
    Salvatore DiMauro
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    Curr Opin Rheumatol 18:636-41. 2006
  3. pmc The clinical maze of mitochondrial neurology
    Salvatore DiMauro
    College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
    Nat Rev Neurol 9:429-44. 2013
  4. pmc Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations
    Alberto Casarin
    Clinical Genetics Unit, Dept of Pediatrics, University of Padova, Via Giustiniani 3, Padova 35128, Italy
    Orphanet J Rare Dis 7:21. 2012
  5. doi The many clinical faces of cytochrome c oxidase deficiency
    Salvatore DiMauro
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    Adv Exp Med Biol 748:341-57. 2012
  6. pmc Mutations in coenzyme Q10 biosynthetic genes
    Salvatore DiMauro
    Department of Neurology, Columbia University Medical Center, New York, New York, USA
    J Clin Invest 117:587-9. 2007
  7. ncbi Mitochondrial DNA mutations in human disease
    S DiMauro
    College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Am J Med Genet 106:18-26. 2001
  8. ncbi Mitochondrial DNA medicine
    Salvatore DiMauro
    Department of Neurology, Columbia University Medical Center, College of Physicians and Surgeons, New York, NY 10032, USA
    Biosci Rep 27:5-9. 2007
  9. ncbi Muscle glycogenoses
    S 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
  10. ncbi Mitochondrial respiratory-chain diseases
    Salvatore DiMauro
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, USA
    N Engl J Med 348:2656-68. 2003

Research Grants

  1. CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASE
    Salvatore DiMauro; Fiscal Year: 2007
  2. MITOCHONDRIAL ENCEPHALOMYOPATHIES AND MENTAL RETARDATION
    Salvatore DiMauro; Fiscal Year: 2008

Detail Information

Publications134 found, 100 shown here

  1. ncbi Approaches to the treatment of mitochondrial diseases
    Salvatore 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...
  2. ncbi Mitochondrial myopathies
    Salvatore 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...
  3. pmc The clinical maze of mitochondrial neurology
    Salvatore DiMauro
    College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
    Nat Rev Neurol 9:429-44. 2013
    ..An outline of diagnostic clues for the various forms of mitochondrial disease, as well as potential therapeutic strategies, is also discussed. ..
  4. pmc Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations
    Alberto Casarin
    Clinical Genetics Unit, Dept of Pediatrics, University of Padova, Via Giustiniani 3, Padova 35128, Italy
    Orphanet J Rare Dis 7:21. 2012
    ..Bezafibrate (BZF), an approved hypolipidemic agent, ameliorates the COX deficiency in mice with mutations in COX10, another COX-assembly gene...
  5. doi The many clinical faces of cytochrome c oxidase deficiency
    Salvatore 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...
  6. pmc Mutations in coenzyme Q10 biosynthetic genes
    Salvatore 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...
  7. ncbi Mitochondrial DNA mutations in human disease
    S 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...
  8. ncbi Mitochondrial DNA medicine
    Salvatore 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...
  9. ncbi Muscle glycogenoses
    S 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...
  10. ncbi Mitochondrial respiratory-chain diseases
    Salvatore DiMauro
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, USA
    N Engl J Med 348:2656-68. 2003
  11. ncbi Mitochondrial diseases: therapeutic approaches
    Salvatore 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...
  12. pmc Muscle glycogenoses: an overview
    S Di Mauro
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    Acta Myol 26:35-41. 2007
  13. pmc 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
  14. ncbi Lessons from mitochondrial DNA mutations
    S 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...
  15. ncbi A polymorphic polymerase
    Salvatore DiMauro
    Department of Neurology, Columbia University Medical Center New York, NY, USA
    Brain 129:1637-9. 2006
  16. ncbi Mitochondrial disorders
    Salvatore 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...
  17. ncbi Mitochondrial encephalomyopathies: diagnostic approach
    Salvatore 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...
  18. ncbi Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects
    Salvatore 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...
  19. ncbi Mitochondrial diseases
    Salvatore 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
    ....
  20. ncbi Mitochondrial medicine
    Salvatore 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...
  21. ncbi Mitochondrial encephalomyopathies: an update
    Salvatore 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
    ....
  22. ncbi Mitochondrial DNA and disease
    Salvatore 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...
  23. ncbi The expanding phenotype of mitochondrial myopathy
    Salvatore 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...
  24. ncbi 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...
  25. ncbi 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...
  26. pmc Pathogenesis and treatment of mitochondrial myopathies: recent advances
    S DiMauro
    Department of Neurology, Columbia University Medical Center, College of Physicians and Surgeons, New York, NY 10032, USA
    Acta Myol 29:333-8. 2010
    ....
  27. doi A history of mitochondrial diseases
    Salvatore 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...
  28. pmc Historical perspective on mitochondrial medicine
    Salvatore 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...
  29. ncbi Mitochondria in neuromuscular disorders
    S 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...
  30. ncbi Mitochondrial encephalomyopathies: therapeutic approach
    Salvatore 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...
  31. doi Pathogenesis and treatment of mitochondrial disorders
    Salvatore 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...
  32. ncbi Mitochondrial disorders in the nervous system
    Salvatore DiMauro
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    Annu Rev Neurosci 31:91-123. 2008
    ....
  33. doi Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain
    S DiMauro
    Department of Neurology, Columbia University Medical Center, New York, NY, USA
    Semin Fetal Neonatal Med 16:181-9. 2011
    ....
  34. pmc Progress and problems in muscle glycogenoses
    S 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...
  35. ncbi 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...
  36. ncbi Metabolic myopathies
    Salvatore 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...
  37. ncbi A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease
    R 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...
  38. ncbi Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene
    G 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...
  39. ncbi Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
    C 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...
  40. ncbi A novel mitochondrial tRNAPhe mutation causes MERRF syndrome
    M 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...
  41. ncbi Subunit Va of human and bovine cytochrome c oxidase is highly conserved
    R 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
    ....
  42. ncbi Mitochondrial encephalomyopathies
    S 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
    ....
  43. ncbi Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidase
    M 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
    ....
  44. ncbi Reversion of mtDNA depletion in a patient with TK2 deficiency
    M 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...
  45. pmc The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency
    S 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)...
  46. ncbi A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy
    C 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...
  47. ncbi Cerebellar ataxia and coenzyme Q10 deficiency
    C 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...
  48. ncbi Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria
    C 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...
  49. ncbi Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease
    S 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...
  50. ncbi Mitochondrial involvement in Alzheimer's disease
    E 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...
  51. pmc Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter
    M 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...
  52. ncbi Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation
    F 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...
  53. ncbi 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...
  54. ncbi Cerebral lactic acidosis correlates with neurological impairment in MELAS
    P Kaufmann
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Neurology 62:1297-302. 2004
    ..To evaluate the role of chronic cerebral lactic acidosis in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)...
  55. ncbi A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy
    C 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...
  56. ncbi Mutation screening in patients with isolated cytochrome c oxidase deficiency
    Sabrina 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...
  57. ncbi A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease
    A 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
    ....
  58. ncbi Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family
    S 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...
  59. ncbi Mitochondrial DNA mutations and pathogenesis
    E 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...
  60. ncbi 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...
  61. pmc Human CoQ10 deficiencies
    C 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...
  62. ncbi POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness
    M 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...
  63. ncbi 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...
  64. pmc Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes
    M 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...
  65. pmc Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency
    S 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
    ....
  66. ncbi [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...
  67. pmc Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
    Leonardo 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...
  68. ncbi Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation
    Michelangelo 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...
  69. ncbi Mitochondrial mutations: genotype to phenotype
    Eric 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...
  70. pmc A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes
    Bulent 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...
  71. ncbi Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations
    Stacey 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...
  72. ncbi Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy
    Cigdem 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...
  73. doi The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases
    Sara 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...
  74. ncbi Mitochondrial diseases
    Tuan 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...
  75. ncbi Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene
    Michelangelo 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...
  76. ncbi Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease
    Leonardo 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...
  77. ncbi Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies
    Massimiliano 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...
  78. pmc CoQ10 deficiency diseases in adults
    Catarina 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...
  79. ncbi Mitochondria and the heart
    M 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...
  80. ncbi Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
    M 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...
  81. ncbi Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial
    P 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)...
  82. pmc Phase II trial of CoQ10 for ALS finds insufficient evidence to justify phase III
    Petra 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...
  83. ncbi Early-onset familial parkinsonism due to POLG mutations
    Guido Davidzon
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    Ann Neurol 59:859-62. 2006
    ..To define the molecular etiology of early-onset parkinsonism and peripheral neuropathy...
  84. ncbi Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA
    Jacklyn 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...
  85. ncbi A novel tRNA(Val) mitochondrial DNA mutation causing MELAS
    Kurenai 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...
  86. doi Protean phenotypic features of the A3243G mitochondrial DNA mutation
    Petra Kaufmann
    Department of Neurology, The Neurological Institute, Columbia University Medical Center, New York, NY 10032, USA
    Arch Neurol 66:85-91. 2009
    ....
  87. ncbi Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes
    Michelangelo Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Neurol 60:1445-7. 2003
    ..To document 2 apparently incongruous clinical disorders occurring in the same infant: congenital myopathy with myophosphorylase deficiency (McArdle disease) and mitochondrial hepatopathy with liver failure and mitochondrial DNA depletion...
  88. pmc Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation
    William 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...
  89. doi Amyotrophic lateral sclerosis with ragged-red fibers
    Michio 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...
  90. pmc Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene
    Jorida 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...
  91. ncbi A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome
    Yutaka 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...
  92. ncbi Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma
    Massimiliano 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...
  93. ncbi Medicinal and genetic approaches to the treatment of mitochondrial disease
    Eric 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...
  94. ncbi Primary coenzyme Q10 deficiency and the brain
    Ali 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...
  95. ncbi Mitochondrial DNA abnormalities and autistic spectrum disorders
    Roser Pons
    Departments of Neurology, Pediatrics, and Psychiatry, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    J Pediatr 144:81-5. 2004
    ..Study design Five patients with autistic spectrum disorders and family histories of mitochondrial DNA diseases were studied. We performed mtDNA analysis in all patients and magnetic resonance spectroscopy in three...
  96. pmc VMA21 deficiency: a case of myocyte indigestion
    Michio 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...
  97. ncbi Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene
    Michelangelo 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...
  98. pmc Therapeutic prospects for mitochondrial disease
    Eric 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...
  99. ncbi Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency
    Stacey 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...
  100. ncbi Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA
    Charalampos 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...
  101. ncbi Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF
    Ali B Naini
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Neurol 62:473-6. 2005
    ....

Research Grants2

  1. CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASE
    Salvatore DiMauro; Fiscal Year: 2007
    ....
  2. MITOCHONDRIAL ENCEPHALOMYOPATHIES AND MENTAL RETARDATION
    Salvatore DiMauro; Fiscal Year: 2008
    ..The Core Unit (Dr. S. DiMauro, Director; Dr. E. A. Schon, Co-Director) will provide direction, administration, external consultation, and shared equipment/technical service to the program as a whole. ..