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)
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Jobanputra V, Naini A: New Developments in Molecular Diagnosis of
Neuromuscular Disorders. Journal of Neurological Disordrs & Stroke 2013,
1:1003.
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Quinzii C, Hirano M, Naini A*: Cerebellar Ataxia and CoQ10 Deficiency. Journal
of Neurological Disordrs & Stroke 2013, 1:1004.(editorial)
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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).
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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.
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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.
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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.
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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.
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Quinzii CM, Tadesse S, Naini A, Hirano M: Effects of inhibiting CoQ10 biosynthesis
with 4-nitrobenzoate in human fibroblasts. PLoS One 2012,
7:e30606.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S: Muscle
phosphoglycerate mutase deficiency revisited. Arch Neurol 2009,
66:394-398.
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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.
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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.
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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.
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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.
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Quinzii CM, LC LP, Naini A, Dimauro S, Hirano M: Human CoQ_{10}
deficiencies. Biofactors 2008, 32:113-118.
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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.
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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.
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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.
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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.
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Naini A*, Shanske S: Detection of Mutations in mtDNA. Methods
Cell Biol 2007, 80:437-463.
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Naini A*, Quinzii C, Navas P, Di Mauro S, Hirano M: Genetics of Primary
CoQ10 Deficiency. Current Genomics 2006, 7:343-349.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Dimauro S, Mancuso M, Naini A: Mitochondrial encephalomyopathies:
therapeutic approach. Ann N Y Acad Sci 2004, 1011:232-245.
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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.
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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.
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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.