Biography


Dr. Ali B. Naini

Columbia University Medical Center, USA

Associate Professor of Pathology & Cell Biology

 

E-mail: abn2@columbia.edu

 

Qualifications

 

1987–1989    Postdoctoral Fellow, Dept. of Neurology, Columbia University

1978            Ph.D. Surrey University, United Kingdom

1971            M.Sc. London University, United Kingdom

 

Publications (Selected)

  1. Jobanputra V, Naini A: New Developments in Molecular Diagnosis of Neuromuscular Disorders. Journal of Neurological Disordrs & Stroke 2013, 1:1003.
  2. Quinzii C, Hirano M, Naini A*: Cerebellar Ataxia and CoQ10 Deficiency. Journal of Neurological Disordrs & Stroke 2013, 1:1004.(editorial)
  3. Lamarca NH, Golden L, John RM, Naini A, De Vivo DC, Sproule DM: Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation? J Child Neurol 2012 (Epub ahead of print).
  4. Shanske S, Naini A, Chmait RH, Akman HO, Mansukhani M, Lu J, Hirano M, Dimauro S: Mutation in an mtDNA Protein-Coding Gene: Prenatal Diagnosis Aided by Fetal Muscle Biopsy. J Child Neurol2013, 28:264-268.
  5. Emmanuele V, Lopez LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, Dimauro S, Quinzii C, Hirano M: Heterogeneity of coenzyme q10 deficiency: patient study and literature review. Arch Neurol 2012, 69:978-983.
  6. Qiu C, Kumar S, Guo J, Lu J, Shi S, Kalachikov SM, Russo JJ, Naini AB, Schon EA, Ju J: Mitochondrial single nucleotide polymorphism genotyping by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry using cleavable biotinylated dideoxynucleotides. Anal Biochem 2012, 427:202-210.
  7. Garone C, Rubio JC, Calvo SE, Naini A, Tanji K, Dimauro S, Mootha VK, Hirano M: MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. Arch Neurol 2012:1-4.
  8. Quinzii CM, Tadesse S, Naini A, Hirano M: Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts. PLoS One 2012, 7:e30606.
  9. Cocchi MN, Giberson B, Berg K, Salciccioli JD, Naini A, Buettner C, Akuthota P, Gautam S, Donnino MW: Coenzyme Q(10) levels are low and associated with increased mortality in post-cardiac arrest patients. Resuscitation 2012, 83:991-995.
  10. Emmanuele V, Lopez LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, Dimauro S, Quinzii C, Hirano M: Heterogeneity of Coenzyme Q10 Deficiency: Patient Study and Literature Review. Arch Neurol 2012.
  11. Greenlee H, Shaw J, Lau YK, Naini A, Maurer M: Lack of Effect of Coenzyme Q10 on Doxorubicin Cytotoxicity in Breast Cancer Cell Cultures. Integr Cancer Ther 2012.
  12. Qiu C, Kumar S, Guo J, Lu J, Shi S, Kalachikov SM, Russo JJ, Naini AB, Schon EA, Ju J: Mitochondrial SNP Genotyping by MALDI-TOF Mass Spectrometry Using Cleavable Biotinylated Dideoxynucleotides. Anal Biochem, 2012.
  13. Quinzii CM, Tadesse S, Naini A, Hirano M: Effects of Inhibiting CoQ(10) Biosynthesis with 4-nitrobenzoate in Human Fibroblasts. PLoS One 2012, 7:e30606.
  14. Donnino MW, Cocchi MN, Salciccioli JD, Kim D, Naini AB, Buettner C, Akuthota P: Coenzyme Q10 levels are low and may be associated with the inflammatory cascade in septic shock. Crit Care2011, 15:R189.
  15. Brogly SB, DiMauro S, Van Dyke RB, Williams PL, Naini A, Libutti DE, Choi J, Chung M, Gerschenson M: Short communication: transplacental nucleoside analogue exposure and mitochondrial parameters in HIV-uninfected children. AIDS Res Hum Retroviruses 2011, 27:777-783.
  16. Donnino MW, Cocchi MN, Salciccioli JD, Kim D, Naini A, Buettner C, Akuthota P: Coenzyme Q10 levels are low and are associated with the inflammatory cascade in septic shock. Crit Care 2011, 15:R189.
  17. Quinzii CM, Lopez LC, Gilkerson RW, Dorado B, Coku J, Naini AB, Lagier-Tourenne C, Schuelke M, Salviati L, Carrozzo R, et al: Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. FASEB J 2011, 24:3733-3743.
  18. DiMauro S, Garone C, Naini A: Metabolic myopathies. Curr Rheumatol Rep 2010, 12:386-393.Lopez LC, Quinzii CM, Area E, Naini A, Rahman S, Schuelke M, Salviati L, Dimauro S, Hirano M: Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects. PLoS One 2010, 5:e11897.
  19. Coku J, Shanske S, Mehrazin M, Tanji K, Naini A, Emmanuele V, Patterson M, Hirano M, DiMauro S: Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene. J Neurol Sci 2010, 290:166-168.
  20. Quinzii CM, Lopez LC, Gilkerson RW, Dorado B, Coku J, Naini AB, Lagier-Tourenne C, Schuelke M, Salviati L, Carrozzo R, et al: Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. FASEB J 2010.
  21. Kurt B, Jaeken J, Van Hove J, Lagae L, Lofgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, et al: A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Arch Neurol 2010, 67:239-244.
  22. Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S: Muscle phosphoglycerate mutase deficiency revisited. Arch Neurol 2009, 66:394-398.
  23. Coku J, Shanske S, Mehrazin M, Tanji K, Naini A, Emmanuele V, Patterson M, Hirano M, Dimauro S: Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene. J Neurol Sci, 2009.
  24. Mehrazin M, Shanske S, Kaufmann P, Wei Y, Coku J, Engelstad K, Naini A, De Vivo DC, Dimauro S: Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS. Am J Med Genet A 2009.
  25. Quinzii CM, Lopez LC, Von-Moltke J, Naini A, Krishna S, Schuelke M, Salviati L, Navas P, DiMauro S, Hirano M: Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. FASEB J 2008, 22:1874-1885.
  26. Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, et al: Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.Neuromuscul Disord 2008, 18:453-459.
  27. Quinzii CM, LC LP, Naini A, Dimauro S, Hirano M: Human CoQ_{10} deficiencies. Biofactors 2008, 32:113-118.
  28. Tanji K, Kaufmann P, Naini AB, Lu J, Parsons TC, Wang D, Willey JZ, Shanske S, Hirano M, Bonilla E, et al: A novel tRNA(Val) mitochondrial DNA mutation causing MELAS. J Neurol Sci 2008.
  29. Hirano M, Angelini C, Montagna P, Hays AP, Tanji K, Mitsumoto H, Gordon PH, Naini AB, Dimauro S, Rowland LP: Amyotrophic lateral sclerosis with ragged-red fibers. Arch Neurol 2008, 65:403-406.
  30. Shanske S, Coku J, Lu J, Ganesh J, Krishna S, Tanji K, Bonilla E, Naini AB, Hirano M, Dimauro S: The G13513A Mutation in the ND5 Gene of Mitochondrial DNA as a Common Cause of MELAS or Leigh Syndrome: Evidence From 12 Cases. Arch Neurol 2008, 65:368-372.
  31. Whittle AJ, Ross OA, Naini A, Gordon P, Mistumoto H, Dachsel JC, Stone JT, Wszolek ZK, Farrer MJ, Przedborski S: Pathogenic Lrrk2 substitutions and Amyotrophic lateral sclerosis. J Neural Transm 2007, 114:327-329.
  32. Naini A*, Shanske S: Detection of Mutations in mtDNA. Methods Cell Biol 2007, 80:437-463.
  33. Naini A*, Quinzii C, Navas P, Di Mauro S, Hirano M: Genetics of Primary CoQ10 Deficiency. Current Genomics 2006, 7:343-349.
  34. Whittle AJ, Ross OA, Naini A, Gordon P, Mistumoto H, Dachsel JC, Stone JT, Wszolek ZK, Farrer MJ, Przedborski S: Pathogenic Lrrk2 substitutions and Amyotrophic lateral sclerosis. J Neural Transm, 2006.
  35. Berthold HK, Naini A, Di Mauro S, Hallikainen M, Gylling H, Krone W, Gouni-Berthold I: Effect of ezetimibe and/or simvastatin on coenzyme Q10 levels in plasma : a randomised trial. Drug Saf2006, 29:703-712.
  36. Oh SJ, Park KS, Ryan HF, Jr., Danon MJ, Lu J, Naini AB, Dimauro S: Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. Muscle Nerve 2006, 34:572-576.
  37. Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M: A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. Am J Hum Genet 2006, 78:345-349.
  38. Hays AP, Naini A, He CZ, Mitsumoto H, Rowland LP: Sporadic amyotrophic lateral sclerosis and breast cancer: Hyaline conglomerate inclusions lead to identification of SOD1 mutation. J Neurol Sci2006, 242:67-69.
  39. Horvath R, Schneiderat P, Schoser BG, Gempel K, Neuen-Jacob E, Ploger H, Muller-Hocker J, Pongratz DE, Naini A, DiMauro S, Lochmuller H: Coenzyme Q10 deficiency and isolated myopathy.Neurology 2006, 66:253-255.
  40. Shepherd RK, Checcarelli N, Naini A, De Vivo DC, DiMauro S, Sue CM: Measurement of ATP production in mitochondrial disorders. J Inherit Metab Dis 2006, 29:86-91.
  41. Lamperti C, Naini AB, Lucchini V, Prelle A, Bresolin N, Moggio M, Sciacco M, Kaufmann P, DiMauro S: Muscle coenzyme Q10 level in statin-related myopathy. Arch Neurol 2005, 62:1709-1712.
  42. Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, Basso G, Quinzii C, Angelini C, Hirano M, et al: Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology 2005, 65:606-608.
  43. Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M: Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 2005, 64:539-541.
  44. Naini A, Kaufmann P, Shanske S, Engelstad K, De Vivo DC, Schon EA: Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox". J Neurol Sci 2005, 229-230:187-193.
  45. Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S: Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Arch Neurol2005, 62:473-476.
  46. Dimauro S, Mancuso M, Naini A: Mitochondrial encephalomyopathies: therapeutic approach. Ann N Y Acad Sci 2004, 1011:232-245.
  47. Leung CL, He CZ, Kaufmann P, Chin SS, Naini A, Liem RK, Mitsumoto H, Hays AP: A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. Brain Pathol 2004, 14:290-296.
  48. Shanske S, Pancrudo J, Kaufmann P, Engelstad K, Jhung S, Lu J, Naini A, DiMauro S, De Vivo DC: Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet 2004, 130A:134-137.
  49. Rundek T, Naini A, Sacco R, Coates K, DiMauro S: Atorvastatin decreases the coenzyme Q10 level in the blood of patients at risk for cardiovascular disease and stroke. Arch Neurol 2004, 61:889-892.

 



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