Publications

Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL. Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Molec Genet Metab, 102(2):218-21, 2011.

Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O’Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet, 43(9):883-6, 2011.

Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab, 106(1):55-61, 2012.

El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP. Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab, 2013. Jun 109(2):215-7. PMID: 23583224.

Sharma K, Mathew AV, Gangoiti JA, Wassel CL, Saito R, Ix JH, Karl B, Sharma S, You Y, Wang L, Diamond-Stanic M, Ramachandra-Rao S, Lindenmeyer MT, Forsblom C, Ideker T, Cohen CD, Groop P-H, Barshop BA, Naviaux RK. Urine metabolomics reveals a signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol, in press.

Okamura DM, Bahrami NM, Ren S, Pasichnyk K, Williams JM, Gangoiti JA, Lopez-Guisa JM, Yamaguchi I, Barshop BA, Duffield JS, Eddy AA. Cysteamine modulates oxidative stress and blocks myofibroblast activity in CKD. J Am Soc Nephrol, 2013 Sep 5. [Epub ahead of print] PMID: 24009239.

Gertsman I, Gangoiti JA, Barshop BA. Validation of a dual LC-HRMS platform for clinical metabolic diagnosis in serum, bridging quantitative analysis and untargeted metabolomics. Metabolomics, in press.

Zhu H, Guariglia S, Yu RYL, Li W, Brancho D, Salzer J, Bennett CL, and Chow CW. Mutation of SIMPLE in Charcot-Marie-Tooth 1C Alters Production of Exosomes. Mol. Biol. Cell, PMID: 23576546 (2013).

Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee H-S, Nespeca MP, Peters SU, Sahoo T, Sarco D,\Waisbren SE, Bird LM. Angelman syndrome: Mutations influence features in childhood. Am J Med\Genet A, 155A:81-90 (2011). RESEARCH ARTICLE .

Hugle B, Hoffman H, Bird LM, Gebauer C, Suchowerskyj P, Sack U, Kohlhase J, Schuster V. Hoffman Syndrome: New patients, new insights. Am J Med Genet A, 155A:149-53 (2011). RESEARCH ARTICLE.

Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hako

 

narson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. Using VAAST to identify an X-Linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet 89(1):28-43 (2011). RESEARCH ARTICLE.

Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet, 2011 Oct 14. doi: 10.1002/ajmg.a.34297. RESEARCH ARTICLE.

Tarquinio DC, Levine F, Jones KL, Bird LM. Growth charts for 22q11 deletion syndrome. Am J Med Genet A, 158A(11):2672-81 (2012). RESEARCH ARTICLE.

Ross MK, Ellis LS, Bird LM, Hagood JS. Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome. Pediatr Pulmonol, accepted for publication, RESEARCH ARTICLE.

Overhoff J, Mikhaelian M, Bird LM, Schweitzer D, Haynes K, Schultz RA, Shaffer LG, Rosenfeld JA, Ellison JW. Refinement of the 8q22.1 microdeletion critical region associated with Nablus Mask-Like Facial Syndrome. Am J Med Genet A, accepted for publication, RESEARCH ARTICLE.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, et al. Weaver Syndrome and EZH2 mutations: clarifying the clinical phenotype. Am J Med Genet A, accepted for publication, RESEARCH ARTICLE.

Cherqui S. Is genetic rescue of cystinosis an achievable treatment goal? Nephrol Dial Transplant, Review. [Epub ahead of print].

Johnson JL, Napolitano G, Monfregola J, Rocca CJ, Cherqui S and Catz SD. Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress and reduces lysosome overload in cystinosis. Mol Cell Biol, 33(15):2950-62, 2013.

Harrison F, Yeagy BA, Rocca CJ, Kohn DB, Salomon DR, Cherqui S. Hematopoietic stem cell gene therapy in the mouse model of cystinosis. Mol Ther, 21(2):433-444, 2013.

Cherqui S. Cysteamine therapy: A treatment for cystinosis, not a cure. Commentary article. Kidney Int, 81(2):127-129, 2012.

Simpson J, Nien CJ, Flynn K, Jester B, Cherqui S, Jester J. Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse. Mol Vis, 17:2212-20, 2011.

Taniguchi N, Carames B, Hsu E, Cherqui S, Kawakami Y, Lotz M. Expression patterns and function of chromatin protein HMGB2 during mesenchymal stem cell differentiation. J Biol Chem, 286(48):41489-41498, 2011.

Yeagy BA and Cherqui S. Kidney repair and stem cells: a complex and controversial process. Review. Pediatr Nephrol, 26(9):1427-1434, 2011.

Yeagy BA, Harrison F, Gubler M.C, Koziol JA, Salomon DR, Cherqui S. Kidney preservation by bone marrow cell transplantation depends on the level of stem cell engraftment in hereditary nephropathy. Kidney Int, 79(11):1198-1206, 2011. Cover photo. [Featured in: Pinkernell K. Cellular therapies: What is still missing? Kidney International, 79(11):1161-1163, 2011]

Lichter-Konecki U, Diaz GA, Merritt JL, Feigenbaum A, Jomphe C, Marier JF, Beliveau M, Mauney J, Dickinson K, Martinez A, Mokhtarani M, Scharschmidt B, Rhead W. Ammonia control in children with urea cycle disorders (UCDs): Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate. Mol Genet Metab, 103(4):323-9, 2011. Epub 2011 May 5.

Ghai SJ, Feigenbaum A, Sandesh C Nagamani S, Blaser S, Siriwardena K. Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported? Mol Genet Metab, 104(1-2):107-11, 2011. Epub 2011 Jul 13. Erratum in: Mol Genet Metab, 105(1):159, 2012.

Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL 2nd, Sreenath-Nagamani S, Summar M, Lemons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Mol Genet Metab, 2012 Aug 18. [Epub ahead of print]. Mol Genet Metab, 107(3):308-14, 2012.

Diaz GA, Krivitsky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum; A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholemew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart S, Korson MS, Kronn D, Zori R, Merritt JL, Sreenath-Nagamani S, Mauney J, LeMons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. HEP-12-1233.R1 Hepatology, 2012 Sep 7.

Stacpoole PW, deGrauw TJ, Feigenbaum AS, Hoppel C, Kerr DS, McCandless SE, Miles MV, Robinson BH, Tang PH. Design and implementation of the first randomized controlled trial of Coenzyme Q10 in children with genetic mitochondrial diseases. Mitochondrion, 12:623–629, 2012.

Steenweg ME, van Berge L, van Berkel CGM, de Coo LFM, Temple LK, Brockmann K, Mendonça CIP, Vojta S, Kolk A, Peck D, Carr L, Uziel G, Feigenbaum A, Blaser S, Scheper GC, van der Knaap MS. Early onset LBSL: How severe does it get? Neuropediatrics, 43(6):332-8, 2012.

Potter BK, Chakraborty P, Kronick JB, Wilson K, Coyle D, Feigenbaum A, Geraghty M, Grosse S, Little J, Mhanni A, Mitchell J, Siriwardena K, Wilson BK, Syrowatka A; on behalf of the Canadian Inherited Metabolic Diseases Research Network. Achieving the "triple aim" for inborn errors of

 

metabolism: a practice-based evidence framework to guide outcomes research. Genet Med, 2012:153.

Feigenbaum A, Müller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, MacDougall M, Rutsch F, Raoul CM Hennekam. Singleton-Merten Syndrome: An autosomal dominant disorder with variable expression. AJMG, September 2012 AJMG 12-0531R1.

Nagamani SC, Shchelochkov OA, Mullins MA, Carter S, Lanpher BC, Sun Q, Kleppe S, Erez A, O’Brian Smith E, Marini JC; Members of the Urea Cycle Disorders Consortium, (Collaborators (20) Batshaw ML, Tuchman M, Summar ML, Baumgartner MR, Berry SA, Cederbaum S, Diaz GA, Gallagher RC, Harding CO,Hoffmann G, Kerr DS, Lichter-Konecki U, McCandless SE, Merritt J, Schulze A, Feigenbaum A, Seashore MR, Stricker T, Waisbren S, Wong D, Yudkoff M, Lee B. A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. Mol Genet Metab, 107(3):315-21, 2012.

Ah Mew N, Krivitzky L, McCarter R, Batshaw M, Tuchman M; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network: (Collaborators (22) Batshaw ML, Tuchman M, Summar ML, Baumgartner MR, Berry SA, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC,Harding CO, Hoffmann G, Kerr DS, Lee B, Lichter-Konecki U, McCandless SE, Merritt J 2nd, Schulze A, Seashore MR,Stricker T, Waisbren S, Wong D, Yudkoff M. Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ. J Pediatr, 162(2):324-9, 2013.

Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain, 136(Pt 5):1534-43. 2013.

Kang TH, Guibinga G, Jinnah HA Friedmann T. HPRT deficiency coordinately dysregulates canonical WNT and Presenilin-1 signaling: A neuro-developmental regulatory role for a housekeeping gene? PLoS One, 2011 Jan 28; 6(1): e16572. doi: 10.1371/journal.pone.0016572. Erratum in: PLoS One, 2011;6(3). doi: 10.1371/annotation/893f09fd-ab24-4119-93f4-44a03a3342f9. Jinnah HA [added].

Tsimikas S, Miyanohara A. Hartvigsen K, Merki E, Shaw PX, Chou MY, Pattison J, Torzewski M, Sollors J, Friedmann T, Lai NC, Hammond HK, Getz GS, Reardon CA, Li AC, Banka CL, Witztum J. Human oxidation-specific antibodies reduce foam cell formation and atherosclerosis progression, J Am Coll Cardiol, 58(16):1715-27, 2011.

Guibinga HG, Hrustanovic G, Bouic K, Jinnah HA, Friedmann T. MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: Clues for Lesch Nyhan Disease? Human Mol Gen, 21(3):609-22, 2012. Epub 2011 Oct. 31; 21(3): 609-622; doi: 10.1093/hmg/ddr495.

Mastrangelo L, Kim JE, Miyanohara A, Kang TH, Friedmann T. Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase. Proc Natl Acad Sci USA, 109(9): 3377 – 3382, 2012. doi: 10.1073/pnas.1118067109. Epub 2012 Feb. 13.

Curay-Corrigan J, Cohen-Haguenauer O, O’Reilly M, Ross SR, Fan H, Rosenberg N, Somia N, King N, Friedmann T, Dunbar C, Aluti A, Naldini L, Baum C, von Kalle C, Hans-Peter K, Montini E, Bushman F, Sorrentino BP, Carrondo M, Malech H, Gahrton G, Shapiro R, Wolff L, Rosenthal E, Jambou R, Zaia, J, Kohn D. Challenges in vector and trial design using retroviral vectors for long-term gene correction in hematopoietic stem cell gene therapy. Mol Ther, 20(6): 1084-1094, 2012; Doi: 10.1038/mt.2012.93.

Friedmann T, Flenker U, Georgakopoulos C, Alsayrafi M, Sottas PE, Williams SA, Gill RD. Evolving Concepts and techniques for anti-doping. Bioanalysis, 4(13):1667-1680, 2012. doi: 10.4155/bio.12.146.

Kang TH, Park Y, Bader, Friedmann T. The housekeeping gene hypoxanthine guanine phosphoribosyltransferase (HPRT) regulates multiple developmental and metabolic pathways of murine embryonic stem cell neuronal differentiation. PLoS One, in press 2013.

Yakhnenko I, Wong WK, Katkov II, Itkin-Ansari P. Cryopreservation of human insulin expressing cells macro-encapsulated in a durable therapeutic immunoisolating device theracyte. Cryo Letters, 33(6):518-31, 2012.

Kiselyuk A, Lee SH, Farber-Katz S, Zhang M, Athavankar S, Cohen T, Pinkerton AB, Ye M, Bushway P, Richardson AD, Hostetler HA, Rodriguez-Lee M, Huang L, Spangler B, Smith L, Higginbotham J, Cashman J, Freeze H, Itkin-Ansari P, Dawson MI, Schroeder F, Cang Y, Mercola M, Levine F. HNF4α antagonists discovered by a high-throughput screen for modulators of the human insulin promoter. Chem Biol, 19(7):806-18, 2012. doi: 10.1016/j.chembiol.2012.05.014.

Lee SH, Hao E, Levine F, Itkin-Ansari P. Id3 upregulates BrdU incorporation associated with a DNA damage response, not replication, in human pancreatic β-cells. Islets. 3(6):358-66, 2011. doi: 10.4161/isl.3.6.17923. Epub 2011 Nov 1.

Lee SH, Hao E, Kiselyuk A, Shapiro J, Shields DJ, Lowy A, Levine F, Itkin-Ansari P. The Id3/E47 axis mediates cell-cycle control in human pancreatic ducts and adenocarcinoma. Mol Cancer Res, 9(6):782, 2011.

Pottekat A, Becker S, Spencer KR, Yates JR 3rd, Manning G, Itkin-Ansari P, Balch WE. Insulin biosynthetic interaction network component, TMEM24, facilitates insulin reserve pool release. Cell Rep, 4(5):921-30, 2012. doi: 10.1016/j.celrep.2013.07.050. Epub 2013 Sep 5.

Tarquinio DC, Levine F, Jones KL, Bird LM. Growth charts for 22q11 deletion syndrome. Am J Med Genet A, 158A(11):2672-81, 2012. doi: 10.1002/ajmg.a.35485. Epub 2012 Aug 6.

Izumi K, Konczal LL, Mitchell AL, Jones

MC. Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children’s hospitals and a systematic literature review. J Pediatr, 160(4):645-650.e2, 2012. doi: 10.1016/j.jpeds.2011.09.021.Epub 2011 Nov 1.

Rice KJ, Ballas J, Lai E, Hartney C, Levine F, Pretorius DH. Diagnosis of fetal limb abnormalities before 15 weeks: Cause for concern. J Ultrasound Med, 30(7):1009-19, 2011.

Batlevi Y, La Spada AR. Mitochondrial autophagy in neural function, neurodegenerative disease, neuron cell death, and aging. Neurobiology of Disease, 43: 46-51, 2011.

Malik B, Nirmalananthan N, Bilsland LG, La Spada AR, Hanna MG, Schiavo G, Gallo JM & Greensmith L. Absence of disturbed axonal transport in spinal and bulbar muscular atrophy: Implications for disease pathogenesis and therapeutic targets. Human Molecular Genetics, 20: 1776-1786, 2011.

Wilburn B, Rudnicki DD, Zhao J, Sopher BL, Osmand A, La Spada AR, Margolis RL, Sun YE & Yang XW. Bidirectional CUG/CAG transcripts and toxic polyglutamine-mediated CBP transcriptional dysregulation in Huntington’s Disease Like-2 (HDL-2) mice. Neuron, 70: 427-440, 2011.

Sopher BL, Ladd PD, Pineda VV, Libby RT, Sunkin SM, Hurley JB, Thienes CP, Gaasterland T, Filippova GN & La Spada AR. CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense non-coding RNA. Neuron, 70: 1071-1084, 2011 (Lead article; selected for VIDEO ABSTRACT).

Furrer SA, Mohanachandan MS, Waldherr SM, Chang C, Damian VA, Sopher BL, Garden GA & La Spada AR. Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous Bergmann glia degeneration. Journal of Neuroscience, 31: 16269-16278, 2011 (Cover story).

Tsunemi T, La Spada AR. PGC-1a at the intersection of bioenergetics regulation and neuron function: From Huntington’s disease to Parkinson’s disease and beyond. Progress in Neurobiology, 97: 142-151, 2012.

La Spada AR. Finding a sirtuin truth in Huntington’s disease. Nature Medicine, 18: 24-26, 2012.

Nakamura Y, Tagawa K, Oka T, Sasabe T, Ito H, Shiwaku H, La Spada AR, Okazawa H. Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network. Human Molecular Genetics, 21:1099-1110, 2012.

Hashimoto M, La Spada AR. b-synuclein in the pathogenesis of Parkinson’s disease and related a-synucleinopathies: Emerging roles and new directions. Future Neurology, 7:155-163, 2012.

La Spada AR, Garden GA. Intercellular (mis)communication in neurodegenerative disease. Neuron, 73:886-901, 2012.

Tsunemi T, Soriano KR, Morrison BE, Au J, Vázquez Roque RA, Lazarowski ER, Damian VA, Masliah E & La Spada AR. PGC-1α rescues Huntington’s disease by preventing oxidative stress and promoting TFEB function. Science Translational Medicine, 4:142ra97, 2012 (Selected by DISCOVER magazine as one of the top 100 scientific advances for 2012.)

Klionsky DJ, La Spada AR, Zuckerbraun B. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy, 8:445-544, 2012.

Ward JM, La Spada AR. The expanding world of stem cell modeling of Huntington’s disease: creating tools with a promising future. Genome Medicine, 4:68, 2012.

Sekigawa A, Fujita M, Sekiyama K, Takamatsu Y, Hatano T, Rockenstein E, La Spada AR, Masliah E, Hashimoto M. Distinct mechanisms of axonal globule formation in mice expressing human wild type alpha-synuclein or dementia with Lewy bodies-linked P123H beta-synuclein. Molecular Brain, 5:34, 2012.

Malik B, Nirmalanthan N, Gray A, La Spada AR, Hanna MG, Greensmith L. Co-induction of the heat shock response ameliorates disease in a mouse model of spinal bulbar muscular atrophy: implications for therapy. Brain, 136: 926-943, 2013.

Fratta P, Malik B, Gray A, La Spada AR, Hanna MG, Fisher EM, Greensmith L. FUS is not dysregulated by the SBMA androgen receptor polyglutamine repeat expansion. Neurobiology of Aging, 34: 1516.e17-19, 2013.

Furrer SA, Waldherr SM, Mohanachandan MS, Baughn TD, Nguyen KT, Sopher BL, Damian VA, Garden GA, La Spada AR. Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7. Human Molecular Genetics, 22:890–903, 2013.

Nakamura Y, Fujita K, Oka T, Ito H, Tagawa K, Sasabe T, Katsuta A, Tamura T, Motoki K, Sone M, Toshida C, Katsuno M, Eishi Y, Murata M, Taylor JP, Wanker EE, Kono K, Tashiro S, Sobue G, La Spada AR, Okazawa H. A functional deficiency of TERA/VCP/p97 in DNA double strand break repair is responsible for multiple polyglutamine diseases. Nature Communications, 4:1816, 2013.

Haun F, Nakamura T, Shiu A, Cho D-H, Tsunemi T, Holland EA, La Spada AR, Lipton SA. S-Nitrosylation of Drp1 mediates mutant huntingtin-induced mitochondrial fragmentation and neuronal injury in Huntington’s disease. Antioxidants & Redox Signaling (in press 2013).

Sekigawa A, Sekiyama K, Fujita M, Takamatsu Y, La Spada AR, Masliah E, Hashimoto M. Dual effects of β-synuclein on the pathogenesis of Parkinson disease. Annals of Neurology (in press 2013).

Mason AG, Tome S, Smard J, Libby RT, Bammler TK, Beyer RP, Morton AJ, Pearson CE, La Spada AR. Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age. Human Molecular Genetics (in press 2013).

Lee S-H, Hao E, Kiselyuk A, Shapiro JR, Shields DJ, Lowy A, Levine F, Itkin-Ansari P. The Id3/E47 axis mediates cell

 

cycle control in human pancreatic ducts and adenocarcinoma. Molecular Cancer Research, 9:782-90, 2011. PMCID: PMC3329516.

Lee S-H, Hao E, Levine F. β−cell replication and islet neogenesis following partial pancreatectomy. Islets, 3:188-95, 2011. PMCID: PMC3329516.

Lee S-H, Hao E, Levine F, Itkin-Ansari P. Id3 upregulates BrdU incorporation associated with a DNA damage response, not replication, in human pancreatic beta-cells. Islets, 3:358-66, 2011. PMCID: PMC3329516.

Tyrberg B, Miles P, Azizian KT, Denzel M, Nieves M, Monosov EZ, Levine F, Ranscht B. T-cadherin (Cdh13) in association with pancreatic β-cell granules contributes to second phase insulin secretion. Islets, 3:327-37, 2011. PMCID: PMC3329514.

Kiselyuk A, Lee S-H, Farber-Katz S, Zhang M, Athavankar S, Cohen T, Pinkerton AB, Ye M, Bushway P, Richardson AD, Hostetler HA, Huang L, Spangler B, Smith L, Higginbotham J, Cashman J, Itkin-Ansari P, Dawson MI, Schroeder F, Cang Y, Mercola M, Levine F. HNF4a antagonists discovered by a high-throughput screen for modulators of the human insulin promoter. Chemistry and Biology, 19:806-18, 2012. PMCID: PMC3447631.

Cohen T, Sundaresh S, Levine F. A novel mechanism for antipsychotic-induced metabolic dysfunction; modulation of the TGFb pathway. Molecular Psychiatry, 18(3):347-57, 2013. PMID 22290122.

Lee SH, Athavankar S, Cohen T, Piran R, Kiselyuk A, Levine F. 2013. Identification of alverine and benfluorex as HNF4α activators. ACS Chem Biol, May 15 [Epub ahead of print] PMID: 23675775.

Hao E, Lee SH, Levine F. Efficient β-Cell regeneration by a combination of neogenesis and replication following β-Cell ablation and reversal of pancreatic duct ligation. Stem Cells, Epub 2013/08/08. doi: 10.1002/stem.1492. PubMed PMID: 23922239.

Lee SH, Piran R, Keinan E, Pinkerton A, Levine F. Stem Cell, 2013 Aug 6. doi: 10.1002/stem.1496. Epub ahead of print. PMID: 23922283.

Hrvoj-Mihic B, Marchetto MC, Gage FH, Semendeferi K, Muotri AR. Novel tools, classic techniques: Evolutionary studies using primate pluripotent stem cells. Biol Psychiatry, 2013.

Yoshioka N, Gros E, Li HR, Kumar S, Deacon DC, Maron C, Muotri AR, Chi NC, Fu XD, Yu BD, Dowdy SF. Efficient generation of human iPSCs by a synthetic self-replicative RNA. Cell Stem Cell, 13, 246-54, 2013.

Tang X, Zhou L, Wagner AM, Marchetto MCN, Muotri AR, Gage FH, Chen G. Astroglial cells regulate the developmental timeline of human neurons differentiated from induced pluripotent stem cells. Stem Cell Research, 2, 743-57, 2013.

Muotri AR. Voices: Stem cells in translation. Brain in a dish. Cell, 153, 1177-1179, 2013.

Lovatel GA, Elsner VR, Bertoldi K, Vanzella C, Moyses FD, Vizuete A, Spindler C, Cechinel LR, Netto CA, Muotri AR, Siqueira IR. Treadmill exercise induces age-related changes in aversive memory, neuroinflammatory and epigenetic processes in the rat hippocampus. Neurobiol Learn Mem, 13: 20-8, 2013.

Beltrao-Braga PC, Pignatari GC, Russo FB, Fernandes IR, Muotri AR. In-a-dish: Induced pluripotent stem cells as a novel model for human diseases. Cytometry A, 83: 11-17, 2013.

Elsner VR, Lovatel GA, Moyses F, Bertoldi K, Spinder C, Cechinel LR, Muotri AR, Siqueira IR. Exercise induces age-dependent changes on epigenetic parameters in rat hippocampus: a preliminary study. Exp. Gerontol, 12:308-312, 2012.

Trujillo CA, Negraes PD, Schwindt TT, Lameu C, Carromeu C, Muotri AR, Pesquero JB, Cerqueira DM, Pillat MM, de Souza HD, Turaca LT, Abreu JG, Ulrich H. Kinin-B2 receptor activity determines the differentiation fate of neural stem cells. J Biol Chem, 287: 44046-61, 2012.

Thomas CA, Paquola AC, Muotri AR. LINE-1 Retrotransposition in the nervous system. Annu Rev Cell Dev Biol, 28: 555-573, 2012.

Gage FH, Muotri AR. What makes each brain unique. Sci. Am, 306, 26-31, 2012.

Freitas BC, Trujillo CA, Carromeu C, Yusupova M, Herai R, Muotri AR. Stem cells and modeling of autism spectrum disorders. Exp Neurol, 12: 379-2, 2012.

Miranda HC, Herai RH, Thome CH, Gomes GG, Panepucci RA, Orellana MD, Covas DT, Muotri AR, Greene LJ, Faça VM. A quantitative proteomic and transcriptomic comparison of human mesenchymal stem cells from bone marrow and umbilical cord vein. Proteomics, 17: 2607-2617, 2012.

Andrade LN, Nathanson JL, Yeo GW, Menck CF, Muotri AR. Evidence for premature aging due to oxidative stress in iPSCs from Cockayne Syndrome. Hum Mol Genet, 21: 3825-34, 2012.

Chailangkarn T, Acab A, Muotri AR. Modeling neurodevelopmental disorders using human neurons. Current Opinion in Neurobiology, 22: 785-90, 2012.

Thomas CA, Muotri AR. LINE-1: Creators of neuronal diversity. Front. Bioscie. 4: 1663-8, 2012.

Felfly H, Zambon AC, Xue J, Muotri AR, Zhou D, Snyder E, Haddad, G. Severe Hypoxia: consequences to neural stem cells and neurons. J. Neurol. Res, 1(5): 177-189, 2011.

Coufal NG, Garcia-Perez JL, Peng GE, Marchetto MC, Muotri AR, Mu Y, Carson CT, Macia A, Moran JV, Gage FH. Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells. Proc. Natl. Acad. Sci, USA,108(51): 20382-7, 2011.

Ming GL, Brüstle O, Muotri AR, Studer L, Wernig M, Christian KM. Cellular reprogramming: Recent advances in modeling neurological diseases. J Neurosci. 31(45): 16070-16075, 2011.

Vessoni AT, Muotri AR, Okamoto OK. Autophagy in stem cells maintenance and differentiation. Stem Cells Dev, 21: 513-20, 2012.

Mitne-Neto M, Machado-Costa M, Marchetto MC, Bengtson MH, Joazeiro CA, Tsuda H, Bellen HJ, Silva HA, Oliveira AS, Lazar M, Muotri AR,*

Zatz M.* Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients. Hum Mol Genet, 20(18):3642-52, 2011. *co-corresponding authors

Felfly H, Xue J, Zambon A, Muotri AR, Zhou D, Haddad G. Identification of a neuronal gene expression signature: role of cell-cycle arrest in murine neuronal differentiation in vitro. Am J Physiol Regul Integr Comp Physiol, 301(3):R727-45, 2011.

Beltrão-Braga PCB*, Pignatari GC, Maiorka PC, Oliveira NAJ, Lizier NF, Wenceslau CV, Miglino MA, Muotri AR,* Kerkis I. Feeder free derivation of induced pluripotent stem cells from human immature dental pulp stem cells. Cell Transplantation, 20: 1707-1719, 2011. *co-corresponding authors

Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL. Novel mutation in the human MCCA and MCCB gene causing methylcrontonylglycinuria. Mol Genet Metab, 102:218-221, 2011 (PMID 21071250).

Du A, Naviaux RK, Le T, Xu C, Sommer SS, Haas RH. Fibroblast immunodiagnosis of cytochrome oxidase (COX) deficiency in mitochondrial disease. Mitochondrion, 11(3):430-6, 2011. (PMID 21187165).

Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. Novel Mutations in the Human HPRT Gene. Nucleosides, Nucleotides and Nucleic Acids30:440-445, 2011 (PMID 21780909).

Taub PR, Ramirez-Sanchez I, Ciaraldi TP, Perkin G, Murphy A, Naviaux RK, Hogan M, Maisel AS, Henry RR, Ceballos G, Villarreal F. Alterations in skeletal muscle indicators of mitochondrial structure and biogenesis in patients with type 2 diabetes and heart failure: Effects of epicatechin rich cocoa. CTS Clinical and Transl Sci, 5:43-47, 2012 (PMID 22376256).

Frye RE, Naviaux RK. Autistic disorder with complex IV overactivity: A new mitochondrial syndrome. J Ped Neurol, 9:1-8, 2011.

Smith M, Flodman PL, Gargus JJ, Simon MT, Verrell K, Haas R, Reiner GE, Naviaux RK, Osann K, Spence A, Wallace DC. Mitochondrial and ion channel gene alterations in autism. BBA, 1817(10):1796-1802, 2012 (PMID 22538295).

Naviaux RK. Oxidative shielding or oxidative stress? J Pharmacol Exp Ther, 342:608-618, 2012 (PMID 22700427).

Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. Lesch-Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA. Mol Genet Metab, 106(4):498-501, 2012 (PMID 22766437).

Nguyen KV, Naviaux RK, Paik KK, Nakayama T, Nyhan WL. Lesch-nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members. Nucleosides Nucleotides Nucleic Acids, 31(8):616-29, 2012.

Naviaux RK, Zolkipli Z, Wang L, Nakayama T, Naviaux JC, Schuchbauer MA, Rogac M, Tang Q, Dugan LL, Powell SB. Antipurinergic therapy corrects the autism-like features in the poly(IC) mouse model. PloS one 8, e57380, 2013.

Sharma K, Mathew AV, Gangoiti JA, Wassel CL, Saito R, Ix JH, Karl B, Sharma S, You Y, Wang L, Diamond-Stanic M, RamachandraRao S, Lindenmeyer MT, Forslblom C, Ideker T, Cohen CD, Groop P-H, Barshop BA, Naviaux RK. Urine metabolomics reveals a signature of mitochondrial dysfunction in diabetic kidney disease. JASN, in press 2013.

Dugan LL, You Y-H, Ali SS, DeCleves A-E, Okada S, Shekhtman G, Le TP, Wang L, Xu M, Paik KK, Naviaux RK, Sharma K. Mitochondrial Function and superoxide production is reduced in the diabetic kidney and restored by AMPK activation. JCI, in press 2013.

Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Crawford A, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki M, Al-Baradie R, Faqeih E, Spencer E, Rosti RO, Scot E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG. AMPD2 Regulates GTP Synthesis and is Mutated in Potentially-Treatable Neurodenerative Brainstem Disorder. Cell in press, 2013.

Naviaux RK. Metabolic Features of the Cell Danger Response. Mitochondrion in press, 2013.

Golomb BA, Erickson LC, Scott-Van Zeeland AA, Koperski S, Haas RH, Wallace DC, Naviaux RK, Lincoln AJ, Reiner GH, Hamilton G. Preliminary Report: Assessing bioenergetic compromise in autism with 31P-MRS. J Child Neurol, in press 2013.

Decleves A-E, Zolkipli Z, Satriano J, Wang L, Nakayama T, Rogac M, Le TP, Nortier JL, Farquhar MG, Naviaux RK, Sharma K. Regulation of lipid accumulation by AMPK in high fat diet-induced kidney injury. Kidney International, in press 2013.

Naviaux RK. Mitochondria and autism spectrum disorders. In: The Neuroscience of Autism Spectrum Disorders, Buxbaum J, Hof P (eds). Elsevier, San Diego, 2013.

Dolcetta D, Parmigiani P, Salmaso L, Bernardelle R, Cesari U, Andrighetto G, Baschirotto G, Nyhan WL, Hladnik U. Quantitative evaluation of the clinical effects of s-adenosylmethionine on mood and behavior in lesch-nyhan patients.Nucleosides Nucleotides Nucleic Acids, 32(4):174-88, 2013. doi: 10.1080/15257770.2013.774012.

Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O’Neill PJ, Jinnah HA; for the Lesch-Nyhan Disease International Study Group. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain, 2013 Aug 22

Nguyen KV, Nyhan WL. Identification of novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids, 32(3):155-60, 2013. doi: 10.1080/15257770.2012.742200.

Nguyen KV, Nyhan WL. Identification of novel mutations in the human HPRT gene. Nucleosides Nucleotides Nucleic Acids, 32(3):155-60, 2013. doi: 10.1080/15257770.2012.742200.