Publications 2016

TEAM 1

Bielecki B, Mattern C, Ghoumari AM, Javaid S, Smietanka K, Abi Ghanem C, Mhaouty-Kodja S, Ghandour MS, Baulieu EE, Franklin RJ, Schumacher M, Traiffort E (2016) Unexpected central role of the androgen receptor in the spontaneous regeneration of myelin. Proc Natl Acad Sci U S A 113:14829-14834 (PMID: 27930320) (doi: 10.1073/pnas.1614826113)

Denier C, Chassin O, Vandendries C, Bayon de la Tour L, Cauquil C, Sarov M, Adams D, Flamand-Roze C (2016) Thrombolysis in Stroke Patients with Isolated Aphasia. Cerebrovasc Dis 41:163-169 (PMID: 26751564) (doi: 10.1159/000442303)

Gaignard P, Frechou M, Schumacher M, Therond P, Mattern C, Slama A, Guennoun R (2016) Progesterone reduces brain mitochondrial dysfunction after transient focal ischemia in male and female mice. J Cereb Blood Flow Metab 36:562-568 (PMID: 26661198) (doi: 10.1177/0271678×15610338)

Gonzalez Deniselle MC, Liere P, Pianos A, Meyer M, Aprahamian F, Cambourg A, Di Giorgio NP, Schumacher M, De Nicola AF, Guennoun R (2016) Steroid Profiling in Male Wobbler Mouse, a Model of Amyotrophic Lateral Sclerosis. Endocrinology 157:4446-4460 (PMID: 27571131) (doi: 10.1210/en.2016-1244)

Labeyrie C, Cauquil C, Sarov M, Adams D, Denier C (2016) Cerebral infarction following subcutaneous immunoglobulin therapy for chronic inflammatory demyelinating polyradiculoneuropathy. Muscle Nerve 54:166-167 (PMID: 26873805) (doi: 10.1002/mus.25076)

Lambert AS, Bougneres P (2016) Growth and descent of the testes in infants with hypogonadotropic hypogonadism receiving subcutaneous gonadotropin infusion. Int J Pediatric Endocrinol 2016:13 (PMID: 27379168) (doi: 10.1186/s13633-016-0031-9)

Lamy J, Liere P, Pianos A, Aprahamian F, Mermillod P, Saint-Dizier M (2016) Steroid hormones in bovine oviductal fluid during the estrous cycle. Theriogenology 86:1409-1420 (PMID: 27262884) (doi: 10.1016/j.theriogenology.2016.04.086)

Lozeron P, Lacour MC, Vandendries C, Theaudin M, Cauquil C, Denier C, Lacroix C, Adams D (2016) Contribution of plexus MRI in the diagnosis of atypical chronic inflammatory demyelinating polyneuropathies. J Neurol Sci 360:170-175 (PMID: 26723995) (doi: 10.1016/j.jns.2015.11.048)

Ouni M, Belot MP, Castell AL, Fradin D, Bougneres P (2016) The P2 promoter of the IGF1 gene is a major epigenetic locus for GH responsiveness. Pharmacogenomics J 16:102-106 (PMID: 25869012) (doi: 10.1038/tpj.2015.26)

Ravikumar B, Crawford D, Dellovade T, Savinainen A, Graham D, Liere P, Oudinet JP, Webb M, Hering H (2016) Differential efficacy of the TSPO ligands etifoxine and XBD-173 in two rodent models of Multiple Sclerosis. Neuropharmacology 108:229-237 (PMID: 27039042) (doi: 10.1016/j.neuropharm.2016.03.053)

Schumacher M, Denier C, Oudinet JP, Adams D, Guennoun R (2016) Progesterone neuroprotection: The background of clinical trial failure. J Steroid Biochem Mol Biol 160:53-66 (PMID: 26598278) (doi: 10.1016/j.jsbmb.2015.11.010)

TEAM 2

Boussicault L, Alves S, Lamaziere A, Planques A, Heck N, Moumne L, Despres G, Bolte S, Hu A, Pages C, Galvan L, Piguet F, Aubourg P, Cartier N, Caboche J, Betuing S (2016) CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington’s disease. Brain 139:953-970 (PMID: 26912634) (doi: 10.1093/brain/awv384)

Castellano A, Papinutto N, Cadioli M, Brugnara G, Iadanza A, Scigliuolo G, Pareyson D, Uziel G, Kohler W, Aubourg P, Falini A, Henry RG, Politi LS, Salsano E (2016) Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes. Brain 139:1735-1746 (PMID: 27068048) (doi: 10.1093/brain/aww068)

Muffat J, Li Y, Yuan B, Mitalipova M, Omer A, Corcoran S, Bakiasi G, Tsai LH, Aubourg P, Ransohoff RM, Jaenisch R (2016) Efficient derivation of microglia-like cells from human pluripotent stem cells. Nat Med 22:1358-1367 (PMID: 27668937) (doi: 10.1038/nm.4189)

van Engen CE, Ofman R, Dijkstra IM, van Goethem TJ, Verheij E, Varin J, Vidaud M, Wanders RJ, Aubourg P, Kemp S, Barbier M (2016) CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids. Biochim Biophys Acta 1862:1861-1870 (PMID: 27425035) (doi: 10.1016/j.bbadis.2016.07.006)

Aubourg P (2016) Gene Therapy for Rare Central Nervous System Diseases Comes to Age. Endocrine Development 30:141-146 (PMID: 26684481) (doi: 10.1159/000439339)

Rosenberg JB, Kaminsky SM, Aubourg P, Crystal RG, Sondhi D (2016) Gene therapy for metachromatic leukodystrophy. J Neurosci Res 94:1169-1179 (PMID: 27638601) (doi: 10.1002/jnr.23792)

Traiffort E, Zakaria M, Laouarem Y, Ferent J (2016) Hedgehog: A Key Signaling in the Development of the Oligodendrocyte Lineage. Journal of Developmental Biology 4 (PMID: 29615592) (doi: 10.3390/jdb4030028)

TEAM 3

Dupain C, Ali HM, Mouhoub TA, Urbinati G, Massaad-Massade L (2016) Induction of TTF-1 or PAX-8 expression on proliferation and tumorigenicity in thyroid carcinomas. Int J Oncol 49:1248-1258 (PMID: 27573549) (doi: 10.3892/ijo.2016.3617)

Lozeron P, Not A, Theaudin M, Denier C, Masnou P, Sarov M, Adam C, Cauquil C, Adams D (2016) Safety of intravenous immunoglobulin in the elderly treated for a dysimmune neuromuscular disease. Muscle Nerve 53:683-689 (PMID: 26467654) (doi: 10.1002/mus.24942)

Rousseau A, Cauquil C, Dupas B, Labbe A, Baudouin C, Barreau E, Theaudin M, Lacroix C, Guiochon-Mantel A, Benmalek A, Labetoulle M, Adams D (2016) Potential Role of In Vivo Confocal Microscopy for Imaging Corneal Nerves in Transthyretin Familial Amyloid Polyneuropathy. JAMA Ophthalmology 134:983-989 (PMID: 27367055) (doi: 10.1001/jamaophthalmol.2016.1889)

Sitbon P, Van Elstraete A, Hamdi L, Juarez-Perez V, Mazoit JX, Benhamou D, Rougeot C (2016) STR-324, a Stable Analog of Opiorphin, Causes Analgesia in Postoperative Pain by Activating Endogenous Opioid Receptor-dependent Pathways. Anesthesiology 125:1017-1029 (PMID: 27571257) (doi: 10.1097/aln.0000000000001320)

Urbinati G, de Waziers I, Slamic M, Foussigniere T, Ali HM, Desmaele D, Couvreur P, Massaad-Massade L (2016) Knocking Down TMPRSS2-ERG Fusion Oncogene by siRNA Could be an Alternative Treatment to Flutamide. Molecular therapy Nucleic acids 5:e301 (PMID: 27023109) (doi: 10.1038/mtna.2016.16)

Adams D (2016) Optimizing the management of transthyretin familial amyloid polyneuropathy in Europe: early diagnosis and effective care. Curr Opin Neurol 29 Suppl 1:S1-2 (PMID: 26794616) (doi: 10.1097/wco.0000000000000294)

Adams D, Cauquil C, Labeyrie C, Beaudonnet G, Algalarrondo V, Theaudin M (2016) TTR kinetic stabilizers and TTR gene silencing: a new era in therapy for familial amyloidotic polyneuropathies. Expert Opin Pharmacother 17:791-802 (PMID: 26800456) (doi: 10.1517/14656566.2016.1145664)

Adams D, Suhr OB, Hund E, Obici L, Tournev I, Campistol JM, Slama MS, Hazenberg BP, Coelho T (2016) First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol 29 Suppl 1:S14-26 (PMID: 26734952) (doi: 10.1097/wco.0000000000000289)

Adams D, Beaudonnet G, Adam C, Lacroix C, Theaudin M, Cauquil C, Labeyrie C (2016) Familial amyloid polyneuropathy: When does it stop to be asymptomatic and need a treatment? Rev Neurol (Paris) 172:645-652 (PMID: 27663057) (doi: 10.1016/j.neurol.2016.08.007)

Rajabally YA, Adams D, Latour P, Attarian S (2016) Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses. J Neurol Neurosurg Psychiatry 87:1051-1060 (PMID: 27010614) (doi: 10.1136/jnnp-2015-310835)

Parman Y, Adams D, Obici L, Galan L, Guergueltcheva V, Suhr OB, Coelho T (2016) Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Opin Neurol 29 Suppl 1:S3-s13 (PMID: 26734951) (doi: 10.1097/wco.0000000000000288)

TEAM 4

Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quelin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Genevieve D, Touitou I (2016) The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. Eur J Hum Genet 24:992-1000 (PMID: 26626311) (doi: 10.1038/ejhg.2015.250)

Byrne C, Henen MA, Belnou M, Cantrelle FX, Kamah A, Qi H, Giustiniani J, Chambraud B, Baulieu EE, Lippens G, Landrieu I, Jacquot Y (2016) A beta-Turn Motif in the Steroid Hormone Receptor’s Ligand-Binding Domains Interacts with the Peptidyl-prolyl Isomerase (PPIase) Catalytic Site of the Immunophilin FKBP52. Biochemistry 55:5366-5376 (PMID: 27641460) (doi: 10.1021/acs.biochem.6b00506)

Fogh I, Lin K, Tiloca C, Rooney J, Gellera C, Diekstra FP, Ratti A, Shatunov A, van Es MA, Proitsi P, Jones A, Sproviero W, Chio A, McLaughlin RL, Soraru G, Corrado L, Stahl D, Del Bo R, Cereda C, Castellotti B, Glass JD, Newhouse S, Dobson R, Smith BN, Topp S, van Rheenen W, Meininger V, Melki J, Morrison KE, Shaw PJ, Leigh PN, Andersen PM, Comi GP, Ticozzi N, Mazzini L, D’Alfonso S, Traynor BJ, Van Damme P, Robberecht W, Brown RH, Landers JE, Hardiman O, Lewis CM, van den Berg LH, Shaw CE, Veldink JH, Silani V, Al-Chalabi A, Powell J (2016) Association of a locus in the CMTA1 gene with survival in patients with sporadic amyotrophic lateral sclerosis. JAMA Neurology 73:812-820 (PMID: 27244217) (doi: 10.1001/jamaneurol.2016.1114)

Fontenas L, De Santis F, Di Donato V, Degerny C, Chambraud B, Del Bene F, Tawk M (2016) Neuronal Ndrg4 Is Essential for Nodes of Ranvier Organization in Zebrafish. PLoS genetics 12:e1006459 (PMID: 2790giustiabuard2705) (doi: 10.1371/journal.pgen.1006459)

Kamah A, Cantrelle FX, Huvent I, Giustiniani J, Guillemeau K, Byrne C, Jacquot Y, Landrieu I, Baulieu EE, Smet C, Chambraud B, Lippens G (2016) Isomerization and Oligomerization of Truncated and Mutated Tau Forms by FKBP52 are Independent Processes. J Mol Biol 428:1080-1090 (PMID: 26903089) (doi: 10.1016/j.jmb.2016.02.015)

Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerriere A, Devaux J, Melki J (2016) Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. Am J Hum Genet 99:928-933 (PMID: 27616481) (doi: 10.1016/j.ajhg.2016.07.021)

Meduri G, Guillemeau K, Dounane O, Sazdovitch V, Duyckaerts C, Chambraud B, Baulieu EE, Giustiniani J (2016) Caspase-cleaved Tau-D(421) is colocalized with the immunophilin FKBP52 in the autophagy-endolysosomal system of Alzheimer’s disease neurons. Neurobiol Aging 46:124-137 (PMID: 27479154) (doi: 10.1016/j.neurobiolaging.2016.06.017)

Vivanti A, Benachi A, Huchet FX, Ville Y, Cohen H, Costa JM (2016) Diagnostic accuracy of fetal rhesus D genotyping using cell-free fetal DNA during the first trimester of pregnancy. Am J Obstet Gynecol 215:606.e601-606.e605 (PMID: 27393271) (doi: 10.1016/j.ajog.2016.06.054)

Codron P, Chevrollier A, Kane MS, Echaniz-Laguna A, Latour P, Reynier P, Bonneau D, Verny C, Procaccio V, Lenaers G, Cassereau J (2016) Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations. J Peripher Nerv Syst 21:365-369 (PMID: 27706887) (doi: 10.1111/jns.12192)

El Oussini H, Bayer H, Scekic-Zahirovic J, Vercruysse P, Sinniger J, Dirrig-Grosch S, Dieterle S, Echaniz-Laguna A, Larmet Y, Muller K, Weishaupt JH, Thal DR, van Rheenen W, van Eijk K, Lawson R, Monassier L, Maroteaux L, Roumier A, Wong PC, van den Berg LH, Ludolph AC, Veldink JH, Witting A, Dupuis L (2016) Serotonin 2B receptor slows disease progression and prevents degeneration of spinal cord mononuclear phagocytes in amyotrophic lateral sclerosis. Acta Neuropathol 131:465-480 (PMID: 26744351) (doi: 10.1007/s00401-016-1534-4)

Kratassiouk G, Pritchard LL, Cuvellier S, Vislovukh A, Meng Q, Groisman R, Degerny C, Deforzh E, Harel-Bellan A, Groisman I (2016) The WEE1 regulators CPEB1 and miR-15b switch from inhibitor to activators at G2/M. Cell Cycle 15:667-677 (PMID: 27027998) (doi: 10.1080/15384101.2016.1147631)

Paresys L, Hoffmann K, Froger N, Bianchi M, Villey I, Baulieu EE, Fuchs E (2016) Effects of the Synthetic Neurosteroid: 3beta-Methoxypregnenolone (MAP4343) on Behavioral and Physiological Alterations Provoked by Chronic Psychosocial Stress in Tree Shrews. The international journal of neuropsychopharmacology 19 (PMID: 26476437) (doi: 10.1093/ijnp/pyv119)

Polesskaya A, Pinna G, Sassi Y, Vandamme M, Bigot A, Mouly V, Morozova N, Harel-Bellan A, Degerny C (2016) Post-transcriptional modulation of interleukin 8 by CNOT6L regulates skeletal muscle differentiation. Biochim Biophys Acta 1863:263-270 (PMID: 26608607) (doi: 10.1016/j.bbamcr.2015.11.018)

Rudolf G, Suominen T, Penttila S, Hackman P, Evila A, Lannes B, Echaniz-Laguna A, Bierry G, Tranchant C, Udd B (2016) Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. Journal of neuromuscular diseases 3:275-281 (PMID: 27854214) (doi: 10.3233/jnd-150143)

Yan K, You L, Degerny C, Ghorbani M, Liu X, Chen L, Li L, Miao D, Yang XJ (2016) The Chromatin Regulator BRPF3 Preferentially Activates the HBO1 Acetyltransferase but Is Dispensable for Mouse Development and Survival. J Biol Chem 291:2647-2663 (PMID: 26677226) (doi: 10.1074/jbc.M115.703041)

Topaloglu H, Melki J (2016) Spinal muscular atrophy associated with progressive myoclonus epilepsy. Epileptic disorders 18:128-134 (PMID: 27647482) (doi: 10.1684/epd.2016.0858)

Herlin B, Laforet P, Labrune P, Fournier E, Stojkovic T (2016) Peripheral neuropathy in glycogen storage disease type III: Fact or myth? Muscle Nerve 53:310-312 (PMID: 26575860) (doi: 10.1002/mus.24977)