Dr. Paola Leone

Abi-Saab WM, Maggs DG, Jones T, Jacob R, Srihari V, Thompson J, Kerr D, Leone P, Krystal JH, Spencer DD, During MJ, Sherwin RS. Striking differences in glucose and lactate levels between brain extracellular fluid and plasma in conscious human subjects: effects of hyperglycemia and hypoglycemia. J Cereb Blood Flow Metab, 22(3): 271-9, Mar 2002.

Assadi M, Campellone JV, Janson CG, Veloski JJ, Schwartzman RJ, Leone P. Treatment of spinocerebellar ataxia with buspirone. J Neurol Sci, 260(1-2):143-6, Sep 2007.

Aghai ZH, Faqiri S, Saslow JG, Nakhla T, Farhath S, Kumar A, Eydelman R, Strande L, Stahl G, Leone P, Bhandari V. Angiopoietin 2 concentrations in infants developing bronchopulmonary dysplasia: attenuation by dexamethasone. J Perinatol, 28(2): 149-55, Feb 2008.

Aghai ZH, Kode A, Saslow JG, Nakhla T, Farhath S, Stahl GE, Eydelman R, Strande L, Leone P, Rahman I. Azithromycin suppresses activation of nuclear factor-kappa B and synthesis of pro-inflammatory cytokines in tracheal aspirate cells from premature infants. Pediatr Res, 62(4):483-8, Oct 2007.

Assadi M, Baseman S, Janson C, Wang DJ, Bilaniuk L, Leone P. Serial 1H-MRS in GM2 gangliosidoses. Eur J Pediatr, 167(3):347-52, Mar 2008.

Assadi M, Janson C, Wang DJ, Goldfarb O, Suri N, Bilaniuk L, Leone P. Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease. Eur J Paediatr Neurol, 14(4): 354-9, Jul 2010.

Assadi M, Leone P, Veloski JJ, Schwartzman RJ, Janson CG, Campellone JV. Validating an Ataxia Functional Composite Scale in spinocerebellar ataxia. J Neurol Sci, 15; 268(1-2): 136-9, May 2008.

Assadi M, Wang DJ, Rodriguez Y, Leone P. Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy.  J Cent Nerv Syst Dis, 5: 25-30, July 2013.

Boulis NM, Noordmans AJ, Song DK, Imperiale MJ, Rubin A, Leone P, During M, Feldman EL.Adeno-associated viral vector gene expression in the adult rat spinal cord following remote vector delivery.Neurobiol Dis, 14(3): 535-41, Dec 2003.

During MJ, Fried I, Leone P, Katz A, Spencer DD. Direct measurement of extracellular lactate in the human hippocampus during spontaneous seizures. J Neurochem, 62(6): 2356-61, Jun 1994.

During MJ, Leone P. Adeno-associated virus vectors for gene therapy of neurodegenerative disorders.Clin Neurosci, 3(5): 292-300, 1995-1996. Review.

During MJ, Leone P, Davis KE, Kerr D, Sherwin RS. Glucose modulates rat substantia nigra GABA release in vivo via ATP-sensitive potassium channels. J Clin Invest, 95(5): 2403-8, May 1995.

During MJ, Samulski RJ, Elsworth JD, Kaplitt MG, Leone P, Xiao X, Li J, Freese A, Taylor JR, Roth RH, Sladek JR Jr, O'Malley KL, Redmond DE Jr. In vivo expression of therapeutic human genes for dopamine production in the caudates of MPTP-treated monkeys using an AAV vector. Gene Ther, 5(6): 820-7, Jun 1998.

During MJ, Symes CW, Lawlor PA, Lin J, Dunning J, Fitzsimons HL, Poulsen D, Leone P, Xu R, Dicker BL, Lipski J, Young D. An oral vaccine against NMDAR1 with efficacy in experimental stroke and epilepsy. Science, 287(5457): 1453-60, Feb 2000.

During MJ, Xu R, Young D, Kaplitt MG, Sherwin RS, Leone P. Peroral gene therapy of lactose intolerance using an adeno-associated virus vector. Nat Med, 4(10): 1131-5, Oct 1998.

Francis JS, Markov V, Leone P. Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease. J Inherit Metab Dis, 37(3): 369-81, May 2014.

Francis JS, Olariu A, Kobayashi E, Leone P. GFP-transgenic Lewis rats as a cell source for oligodendrocyte replacement. Exp Neurol, 205(1): 177-89, May 2007.

Francis JS, Olariu A, McPhee SW, Leone P. Novel role for aspartoacylase in regulation of BDNF and timing of postnatal oligodendrogenesis. J Neurosci Res, 84(1): 151-69, Jul 2006.

Francis JS, Strande L, Markov V, Leone P. Aspartoacylase supports oxidative energy metabolism during myelination. J Cereb Blood Flow Metab, 32(9): 1725-36, Sep 2012.

Francis JS, Strande L, Pu A, Leone P. Endogenous aspartoacylase expression is responsive to glutamatergic activity in vitro and in vivo. Glia, 59(10): 1435-46, Oct 2011.

Freese A, Kaplitt MG, O'Connor WM, Abbey M, Langer D, Leone P, O'Connor MJ, During MJ. Direct gene transfer into human epileptogenic hippocampal tissue with an adeno-associated virus vector: implications for a gene therapy approach to epilepsy. Epilepsia, 38(7): 759-66, Jul 1997.

Gautier EL, Ivanov S, Williams JW, Huang SC, Marcelin G, Fairfax K, Wang PL, Francis JS, Leone P, Wilson DB, Artyomov MN, Pearce EJ, Randolph GJ. Gata6 regulates aspartoacylase expression in resident peritoneal macrophages and controls their survival. J Exp Med, 211(8): 1525-31, July 2014.

Inoue H, Ohsawa I, Murakami T, Kimura A, Hakamata Y, Sato Y, Kaneko T, Takahashi M, Okada T, Ozawa K, Francis J, Leone P, Kobayashi E. Development of new inbred transgenic strains of rats with LacZ or GFP. Biochem Biophys Res Commun, 329(1):288-95, Apr 2005.

Janson et. al. "Gene Therapy of Canavan Disease: AAV-2 Vector for Neurosurgical Delivery of Aspartoascylase Gene (ASPA) to the Human Brain." Human Gene Therapy (20 Jul 2002). 13:1391-1412. 

Janson et. al. "Lithium Citrate for Canavan Disease." Pediatric Neurology (15 Apr 2005). 33(4):235-243. 

Janson CG, Assadi M, Francis J, Bilaniuk L, Shera D, Leone P. Lithium citrate for Canavan disease.Pediatr Neurol, 33(4): 235-43, Oct 2005.

Janson CG, Kolodny EH, Zeng BJ, Raghavan S, Pastores G, Torres P, Assadi M, McPhee S, Goldfarb O, Saslow B, Freese A, Wang DJ, Bilaniuk L, Shera D, Leone P. Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene. Ann Neurol, 59(2): 428-31, Feb 2006.

Janson C, McPhee S, Bilaniuk L, Haselgrove J, Testaiuti M, Freese A, Wang DJ, Shera D, Hurh P, Rupin J, Saslow E, Goldfarb O, Goldberg M, Larijani G, Sharrar W, Liouterman L, Camp A, Kolodny E, Samulski J, Leone P. Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain. Hum Gene Ther, 13(11): 1391-412, Jul 2002.

Janson CG, McPhee SW, Francis J, Shera D, Assadi M, Freese A, Hurh P, Haselgrove J, Wang DJ, Bilaniuk L, Leone P. Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI. Neuropediatrics, 37(4): 209-21, Aug 2006.

Janson CG, McPhee SW, Leone P, Freese A, During MJ. Viral-based gene transfer to the mammalian CNS for functional genomic studies. Trends Neurosci, 24(12): 706-12, Dec 2001. Review.

Janson CG, Ramesh TM, During MJ, Leone P, Heywood J. Human intrathecal transplantation of peripheral blood stem cells in amyotrophic lateral sclerosis. J Hematother Stem Cell Res, 10(6): 913-5, Dec 2001.

Kantor B, McCown T, Leone P, Gray SJ. Clinical applications involving CNS gene transfer. Adv Genet, 87: 71-124, October 2014.

Kaplitt MG, Leone P, Samulski RJ, Xiao X, Pfaff DW, O'Malley KL, During MJ. Long-term gene expression and phenotypic correction using adeno-associated virus vectors in the mammalian brain. Nat Genet, 8(2): 148-54, Oct 1994.

Leone et. al. "Aspartoascylase Gene Transfer to the Mammalian Central Nervous System with Therapeutic Implications for Canavan Disease." Annals of Neurology (2000). 48(1):27-38. 

Leone et. al. "Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan Disease." Current Opinion in Molecular Therapeutics (1999). 1(4):487-492. 

Leone P, Janson CG, Bilaniuk L, Wang Z, Sorgi F, Huang L, Matalon R, Kaul R, Zeng Z, Freese A, McPhee SW, Mee E, During MJ. Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. Ann Neurol, 48(1): 27-38, Jul 2000.

Leone P, Janson CG, McPhee SJ, During MJ. Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan disease. Curr Opin Mol Ther, 1(4): 487-92, Aug 1999. Review.

Leone P, Shera D, McPhee SW, Francis JS, Kolodny EH, Bilaniuk LT, Wang DJ, Assadi M, Goldfarb O, Goldman HW, Freese A, Young D, During MJ, Samulski RJ, Janson CG. Long-term follow-up after gene therapy for canavan disease. Sci Transl Med, 19:4(165), 1-13, Dec 2012.

Maggs DG, Jacob R, Rife F, Lange R, Leone P, During MJ, Tamborlane WV, Sherwin RS. Interstitial fluid concentrations of glycerol, glucose, and amino acids in human quadricep muscle and adipose tissue. Evidence for significant lipolysis in skeletal muscle. J Clin Invest, 96(1): 370-7, Jul 1995.

McPhee et. al. "Effects of AAV-2-mediated aspartoascylase gene transfer in the tremor rat model of Canavan disease." Molecular Brain Research (2005). 134:112-121. 

McPhee SW, Francis J, Janson CG, Serikawa T, Hyland K, Ong EO, Raghavan SS, Freese A, Leone P.Effects of AAV-2-mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease. Brain Res Mol Brain Res, 135(1-2): 112-21, Apr 2005.

McPhee SW, Janson CG, Li C, Samulski RJ, Camp AS, Francis J, Shera D, Lioutermann L, Feely M, Freese A, Leone P. Immune responses to AAV in a phase I study for Canavan disease. J Gene Med, 8(5): 577-88, May 2006.

O'Connor WM, Davidson BL, Kaplitt MG, Abbey MV, During MJ, Leone P, Langer D, O'Connor MJ, Freese A. Adenovirus vector-mediated gene transfer into human epileptogenic brain slices: prospects for gene therapy in epilepsy. Exp Neurol, 148(1): 167-78, Nov 1997.

Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B. Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem, 38(11):997-1008, Nov 2005.

Telfeian AE, Federoff HJ, Leone P, During MJ, Williamson A. Overexpression of GluR6 in rat hippocampus produces seizures and spontaneous nonsynaptic bursting in vitro. Neurobiol Dis, 7(4): 362-74, Aug 2000.

Wang J, Leone P, Wu G, Francis JS, Li H, Jain MR, Serikawa T, Ledeen RW. Myelin lipid abnormalities in the aspartoacylase-deficient tremor rat. Neurochem Res, 34(1):138-48, Jan 2009.

Xu R, Janson CG, Mastakov M, Lawlor P, Young D, Mouravlev A, Fitzsimons H, Choi KL, Ma H, Dragunow M, Leone P, Chen Q, Dicker B, During MJ. Quantitative comparison of expression with adeno-associated virus (AAV-2) brain-specific gene cassettes. Gene Ther, 8(17): 1323-32, Sep 2001.

Young D, Lawlor PA, Leone P, Dragunow M, During MJ. Environmental enrichment inhibits spontaneous apoptosis, prevents seizures and is neuroprotective. Nat Med, 5(4): 448-53, Apr 1999.

Zeng BJ, Pastores GM, Leone P, Raghavan S, Wang ZH, Ribeiro LA, Torres P, Ong E, Kolodny EH.Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease. Adv Exp Med Biol, 576:165-73, 2006.

Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH. Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. J Inherit Metab Dis, 25(7): 557-70, Nov 2002.

Zeng BJ, Wang ZH, Torres PA, Pastores GM, Leone P, Raghavan SS, Kolodny EH. Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease. Mol Genet Metab, 89(1-2): 156-63, Sep 2006.

Dr. R. Jude Samulski

Janson et. al. "Gene Therapy of Canavan Disease: AAV-2 Vector for Neurosurgical Delivery of Aspartoacylase Gene ( ASPA ) to the Human Brain." Human Gene Therapy 13.11 (2002): 1391-412. Web.

Mcphee et. al. "Immune Responses to AAV in a Phase I Study for Canavan Disease." The Journal of Gene Medicine J. Gene Med. 8.5 (2006): 577-88. Web.

Leone et. al. "Long-Term Follow-Up After Gene Therapy for Canavan Disease." Science Translational Medicine 4.165 (2012). Web.