Publications 2014

TEAM 1

Adlanmerini M, Solinhac R, Abot A, Fabre A, Raymond-Letron I, Guihot AL, Boudou F, Sautier L, Vessieres E, Kim SH, Liere P, Fontaine C, Krust A, Chambon P, Katzenellenbogen JA, Gourdy P, Shaul PW, Henrion D, Arnal JF, Lenfant F (2014) Mutation of the palmitoylation site of estrogen receptor alpha in vivo reveals tissue-specific roles for membrane versus nuclear actions. Proc Natl Acad Sci U S A 111:E283-290 (PMID: 24371309) (doi: 10.1073/pnas.1322057111)

Denier C, Balu L, Husson B, Nasser G, Burglen L, Rodriguez D, Labauge P, Chevret L (2014) Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene. J Neurol Sci 345:236-238 (PMID: 25128471) (doi: 10.1016/j.jns.2014.07.025)

Depuydt S, Sarov M, Vandendries C, Guedj T, Cauquil C, Assayag P, Lambotte O, Ducreux D, Denier C (2014) Significance of acute multiple infarcts in multiple cerebral circulations on initial diffusion weighted imaging in stroke patients. J Neurol Sci 337:151-155 (PMID: 24332593) (doi: 10.1016/j.jns.2013.11.039)

El Bitar F, Meunier J, Villard V, Almeras M, Krishnan K, Covey DF, Maurice T, Akwa Y (2014) Neuroprotection by the synthetic neurosteroid enantiomers ent-PREGS and ent-DHEAS against Abeta(2)(5)(-)(3)(5) peptide-induced toxicity in vitro and in vivo in mice. Psychopharmacology (Berl) 231:3293-3312 (PMID: 24481566) (doi: 10.1007/s00213-014-3435-3)

Fradin D, Bougneres P (2014) beta cells keep bad epigenetic memories of palmitate. BMC Medicine 12:104 (PMID: 24957655) (doi: 10.1186/1741-7015-12-104)

Garay L, Gonzalez Deniselle MC, Sitruk-Ware R, Guennoun R, Schumacher M, De Nicola AF (2014) Efficacy of the selective progesterone receptor agonist Nestorone for chronic experimental autoimmune encephalomyelitis. J Neuroimmunol 276:89-97 (PMID: 25200475) (doi: 10.1016/j.jneuroim.2014.08.619)

Li D, Wan H, Feng J, Wang S, Su D, Hao S, Schumacher M, Liu S (2014) Comparison of hemihypoglossal- and accessory-facial neurorrhaphy for treating facial paralysis in rats. J Neurol Sci 347:235-241 (PMID: 25454640) (doi: 10.1016/j.jns.2014.10.006)

Sarov M, Not A, de Baulny HO, Masnou P, Vahedi K, Bousser MG, Denier C (2014) A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis. J Neurol Sci 336:257-259 (PMID: 24169224) (doi: 10.1016/j.jns.2013.10.009)

Tros F, Meirhaeghe A, Hadjadj S, Amouyel P, Bougneres P, Fradin D (2014) Hypomethylation of the promoter of the catalytic subunit of protein phosphatase 2A in response to hyperglycemia. Physiological Reports 2 (PMID: 25347859) (doi: 10.14814/phy2.12076)

Wan H, Zhang L, Li D, Hao S, Feng J, Oudinet JP, Schumacher M, Liu S (2014) Hypoglossal-facial nerve « side »-to-side neurorrhaphy for persistent incomplete facial palsy. J Neurosurg 120:263-272 (PMID: 24205907) (doi: 10.3171/2013.9.Jns13664)

Belot MP, Fradin D, Mai N, Le Fur S, Zelenika D, Kerr-Conte J, Pattou F, Lucas B, Bougneres P (2013) CpG methylation changes within the IL2RA promoter in type 1 diabetes of childhood onset. PloS one 8:e68093 (PMID: 23874506) (doi: 10.1371/journal.pone.0068093)

Poisbeau P, Keller AF, Aouad M, Kamoun N, Groyer G, Schumacher M (2014) Analgesic strategies aimed at stimulating the endogenous production of allopregnanolone. Front Cell Neurosci 8:174 (PMID: 24987335) (doi: 10.3389/fncel.2014.00174)

Schumacher M, Mattern C, Ghoumari A, Oudinet JP, Liere P, Labombarda F, Sitruk-Ware R, De Nicola AF, Guennoun R (2014) Revisiting the roles of progesterone and allopregnanolone in the nervous system: resurgence of the progesterone receptors. Prog Neurobiol 113:6-39 (PMID: 24172649) (doi: 10.1016/j.pneurobio.2013.09.004)

Ghandour S, Voskuhl R, Schumacher M (2014) The androgen receptor as a therapeutic target for myelin repair in demyelinating diseases. Expert Rev Endocrinol Metab 9:5-7.

Stack C, Jainuddin S, Elipenahli C, Gerges M, Starkova N, Starkov AA, Jové M, Portero-Otin M, Launay N, Pujol A, Kaidery NA, Thomas B, Tampellini D, Beal MF, Dumont M (2014) Methylene blue upregulates Nrf2/ARE genes and prevents tau-related neurotoxicity. Hum Mol Genet. 23(14):3716-3732. (PMID: 24556215) (doi: 10.1093/hmg/ddu080)

Dumont M, Stack C, Elipenahli C, Jainuddin S, Launay N, Gerges M, Starkova N, Starkov AA, Calingasan NY, Tampellini D, Pujol A, Beal MF (2014) PGC-1α overexpression exacerbates β-amyloid and tau deposition in a transgenic mouse model of Alzheimer’s disease. FASEB J. 28(4):1745-1755 (PMID: 24398293) (doi: 10.1096/fj.13-236331)

TEAM 2

Ferent J, Cochard L, Faure H, Taddei M, Hahn H, Ruat M, Traiffort E (2014) Genetic activation of Hedgehog signaling unbalances the rate of neural stem cell renewal by increasing symmetric divisions. Stem Cell Reports 3:312-323 (PMID: 25254344) (doi: 10.1016/j.stemcr.2014.05.016)

Grybek V, Aubry L, Maupetit-Mehouas S, Le Stunff C, Denis C, Girard M, Linglart A, Silve C (2014) Methylation and transcripts expression at the imprinted GNAS locus in human embryonic and induced pluripotent stem cells and their derivatives. Stem Cell Reports 3:432-443 (PMID: 25241742) (doi: 10.1016/j.stemcr.2014.07.002)

Perdomini M, Belbellaa B, Monassier L, Reutenauer L, Messaddeq N, Cartier N, Crystal RG, Aubourg P, Puccio H (2014) Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich’s ataxia. Nat Med 20:542-547 (PMID: 24705334) (doi: 10.1038/nm.3510)

Rosenberg JB, Sondhi D, Rubin DG, Monette S, Chen A, Cram S, De BP, Kaminsky SM, Sevin C, Aubourg P, Crystal RG (2014) Comparative efficacy and safety of multiple routes of direct CNS administration of adeno-associated virus gene transfer vector serotype rh.10 expressing the human arylsulfatase A cDNA to nonhuman primates. Human Gene Therapy Clinical Development 25:164-177 (PMID: 25144894) (doi: 10.1089/humc.2013.239)

Ferent J, Ruat M, Traiffort E (2014) Symmetric or asymmetric division: sonic Hedgehog controls the fate of neural stem cells. Medecine sciences : M/S 30:705-708 (PMID: 25014467) (doi: 10.1051/medsci/20143006026)

TEAM 3

Ali HM, Urbinati G, Chapuis H, Desmaele D, Bertrand JR, Couvreur P, Massaad-Massade L (2014a) Effects of siRNA on RET/PTC3 junction oncogene in papillary thyroid carcinoma: from molecular and cellular studies to preclinical investigations. PloS one 9:e95964 (PMID: 24759995) (doi: 10.1371/journal.pone.0095964)

Ali HM, Maksimenko A, Urbinati G, Chapuis H, Raouane M, Desmaele D, Yasuhiro H, Harashima H, Couvreur P, Massaad-Massade L (2014b) Effects of silencing the RET/PTC1 oncogene in papillary thyroid carcinoma by siRNA-squalene nanoparticles with and without fusogenic companion GALA-cholesterol. Thyroid 24:327-338 (PMID: 23885719) (doi: 10.1089/thy.2012.0544)

Adams D, Cauquil C, Theaudin M, Rousseau A, Algalarrondo V, Slama MS (2014) Current and future treatment of amyloid neuropathies. Expert Review of Neurotherapeutics 14:1437-1451 (PMID: 25416603) (doi: 10.1586/14737175.2014.983905)

TEAM 4

Araya C, Tawk M, Girdler GC, Costa M, Carmona-Fontaine C, Clarke JD (2014) Mesoderm is required for coordinated cell movements within zebrafish neural plate in vivo. Neural Dev 9:9 (PMID: 24755297) (doi: 10.1186/1749-8104-9-9)

Diekstra FP, Van Deerlin VM, van Swieten JC, Al-Chalabi A, Ludolph AC, Weishaupt JH, Hardiman O, Landers JE, Brown RH, Jr., van Es MA, Pasterkamp RJ, Koppers M, Andersen PM, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, van Damme P, Melki J, Meininger V, Shatunov A, Shaw CE, Leigh PN, Shaw PJ, Morrison KE, Fogh I, Chio A, Traynor BJ, Czell D, Weber M, Heutink P, de Bakker PI, Silani V, Robberecht W, van den Berg LH, Veldink JH (2014) C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. Ann Neurol 76:120-133 (PMID: 24931836) (doi: 10.1002/ana.24198)

Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Soraru G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Sacca F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chio A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D’Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V (2014) A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet 23:2220-2231 (PMID: 24256812) (doi: 10.1093/hmg/ddt587)

Giustiniani J, Chambraud B, Sardin E, Dounane O, Guillemeau K, Nakatani H, Paquet D, Kamah A, Landrieu I, Lippens G, Baulieu EE, Tawk M (2014) Immunophilin FKBP52 induces Tau-P301L filamentous assembly in vitro and modulates its activity in a model of tauopathy. Proc Natl Acad Sci U S A 111:4584-4589 (PMID: 24623856) (doi: 10.1073/pnas.1402645111)

Goris A, van Setten J, Diekstra F, Ripke S, Patsopoulos NA, Sawcer SJ, van Es M, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH, Jr., Shatunov A, Leigh N, Al-Chalabi A, Shaw CE, Traynor BJ, Chio A, Restagno G, Mora G, Ophoff RA, Oksenberg JR, Van Damme P, Compston A, Robberecht W, Dubois B, van den Berg LH, De Jager PL, Veldink JH, de Bakker PI (2014) No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Hum Mol Genet 23:1916-1922 (PMID: 24234648) (doi: 10.1093/hmg/ddt574)

Laquerriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Heron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attie-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrere AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J (2014) Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet 23:2279-2289 (PMID: 24319099) (doi: 10.1093/hmg/ddt618)

Steichen C, Luce E, Maluenda J, Tosca L, Moreno-Gimeno I, Desterke C, Dianat N, Goulinet-Mainot S, Awan-Toor S, Burks D, Marie J, Weber A, Tachdjian G, Melki J, Dubart-Kupperschmitt A (2014) Messenger RNA- versus retrovirus-based induced pluripotent stem cell reprogramming strategies: analysis of genomic integrity. Stem Cells Translational Medicine 3:686-691 (PMID: 24736403) (doi: 10.5966/sctm.2013-0158)

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D’Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerriere A, Gregorio CC, Ottenheijm CA, Bonnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF (2014) Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 124:4693-4708 (PMID: 25250574) (doi: 10.1172/jci75199)

Echaniz-Laguna A, Dubourg O, Carlier P, Carlier RY, Sabouraud P, Pereon Y, Chapon F, Thauvin-Robinet C, Laforet P, Eymard B, Latour P, Stojkovic T (2014) Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. Neurology 82:1919-1926 (PMID: 24789864) (doi: 10.1212/wnl.0000000000000450)