Team 01: Genomic Imprinting and the epigenetic control of cell fate determination

Correct embryonic development of organisms relies on the unique capability of pluripotent stem cells to differentiate in (almost) all cell types of the organism. During this tightly regulated process stem cells progressively develop a narrower potential that ultimately results in commitment to a specific cell fate with specific gene expression profiles and functional properties. 


This developmental program requires the concerted action of sequence-specific transcription factors and cell signalling, but it is also accompanied or caused by epigenetic modifications.

Our thematic precisely  aims to address if and how histone modifications could be part of a –short-term– flexible epigenetic silencing mechanism, potentially involved in cell fate decisions. In this purpose, we are focusing on the so called bivalent chromatin structures. These structures are unusual because their histone H3 is concomitantly marked by the “active” H3K4me and the “repressive” H3K27me3 modifications. Bivalent domains were initially detected at promoters of many genes in both human and mouse ES cells. In the proposed model, bivalent chromatin domains act to repress gene transcription through H3K27me3, while keeping genes "poised" for alternative fates for when a differentiation pathway is induced by specific developmental cues However, their precise role in development remains controversial because probing the function of bivalent domains in developing organisms remains a challenge.

To gain insight into this important issue we  analyse bivalency in two well defined frames, accounting for both normal and pathological contexts, namely in the genomic imprinting developmental process and in glioma tumors.

From our recent data it emerges that control of neural-specific imprinted expression on one hand, and alteration of HOX cluster in gliomas, in other hand, are especially relevant and useful models to decipher how bivalent chromatin domains are (de)regulated in both normal and pathological contexts and further evaluate the function of these structures in a developmental context. Specifically, our rational is that  bivalent domains sharing the same fate upon development are regulated by few key factors that are at the node of networks of long-range physical interactions . Our project, conducted  on these two models,  is designed to reveal these networks , identify the underlying key factors and functionally determine their implication in normal and pathological context.

Research thematics


Last Name First Name Position Contact
Philippe ARNAUD profile picture ARNAUD Philippe Principal Investigator
Catherine BARRIERE profile picture BARRIERE Catherine Associate Professor
Jil CERCY profile picture CERCY Jil Ph.D Student
Franck COURT profile picture COURT Franck Research Fellow
Anne FOGLI profile picture FOGLI Anne Associate Professor - Clinician
Celine GONTHIER profile picture GONTHIER Celine Research Engineer
Elisa LE BOITEUX profile picture LE BOITEUX Elisa Ph.D Student
Marie-Elisa PINSON profile picture PINSON Marie-Elisa Ph.D Student
Isabelle VAILLANT profile picture VAILLANT Isabelle Associate Professor


  • 2017
    • F. Court and P. Arnaud, “An annotated list of bivalent chromatin regions in human ES cells: a new tool for cancer epigenetic research”, Oncotarget, 2017.
  • 2016
    • F. Court and P. Arnaud, “An annotated list of bivalent chromatin regions in human ES cells: a new tool for cancer epigenetic research.”, Oncotarget, 2016.
    • D. Monk, J. Morales, J. den Dunnen, S. Russo, F. Court, D. Prawitt, T. Eggermann, J. Beygo, K. Buiting and Z. Tumer, “Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.”, Epigenetics, pp. 0, 2016.
    • M. Sanchez-Delgado, F. Court, E. Vidal, J. Medrano, A. Monteagudo-Sanchez, A. Martin-Trujillo, C. Tayama, I. Iglesias-Platas, I. Kondova, R. Bontrop, M. Poo-Llanillo, T. Marques-Bonet, K. Nakabayashi, C. Simon and D. Monk, “Human Oocyte-Derived Methylation Differences Persist in the Placenta Revealing Widespread Transient Imprinting.”, PLoS Genet., vol. 12 (11) , pp. e1006427, 2016.
    • J. Huertas-Martinez, F. Court, S. Rello-Varona, D. Herrero-Martin, O. Almacellas-Rabaiget, M. Sainz-Jaspeado, S. Garcia-Monclus, L. Lagares-Tena, R. Buj, L. Hontecillas-Prieto, A. Sastre, D. Azorin, X. Sanjuan, R. Lopez-Alemany, S. Moran, J. Roma, S. Gallego, J. Mora, X. Garcia Del Muro, P. Giangrande, M. Peinado, J. Alonso, E. de Alava, D. Monk, M. Esteller and O. Tirado, “DNA methylation profiling identifies PTRF/Cavin-1 as a novel tumor suppressor in Ewing sarcoma when co-expressed with Caveolin-1.”, Cancer letters, 2016.
    • T. Bouschet, E. Dubois, C. Reynes, S. Kota, S. Rialle, S. Maupetit-Mehouas, M. Pezet, A. Le Digarcher, S. Nidelet, V. Demolombe, P. Cavelier, C. Meusnier, C. Maurizy, R. Sabatier, R. Feil, P. Arnaud, L. Journot and A. Varrault, “In Vitro Corticogenesis from Embryonic Stem Cells Recapitulates the In Vivo Epigenetic Control of Imprinted Gene Expression.”, Cerebral cortex (New York, N.Y. : 1991), 2016.
    • S. Maupetit-Mehouas, B. Montibus, D. Nury, C. Tayama, M. Wassef, S. Kota, A. Fogli, F. Cerqueira Campos, K. Hata, R. Feil, R. Magueron, K. Nakabayashi, F. Court and P. Arnaud, “Imprinting control regions (ICRs) are marked by mono-allelic bivalent chromatin when transcriptionally inactive.”, Nucleic Acids Res., vol. 44 (2) , pp. 621-635, 2016.
    • A. Fogli, E. Chautard, C. Vaurs-Barriere, B. Pereira, M. Muller-Barthelemy, F. Court, J. Biau, A. Almeida Pinto, J. Kemeny, T. Khalil, L. Karayan-Tapon, P. Verrelle, B. Costa and P. Arnaud, “The tumoral A genotype of the MGMT rs34180180 single-nucleotide polymorphism in aggressive gliomas is associated with shorter patients' survival.”, Carcinogenesis, vol. 37 (2) , pp. 169-176, 2016.
  • 2015
    • V. Ea, F. Court and T. Forne, “Quantitative Analysis of Intra-chromosomal Contacts: The 3C-qPCR Method.”, Meth. Mol. Biol., 2015.
    • S. Kersseboom, S. Horn, W. Visser, J. Chen, E. Friesema, C. Vaurs-Barriere, R. Peeters, H. Heuer and T. Visser, “In vitro and mouse studies support therapeutic utility of triiodothyroacetic acid in MCT8 deficiency.”, Molecular endocrinology (Baltimore, Md.), pp. me00009999, 2015.
    • L. Veselovska, S. Smallwood, H. Saadeh, K. Stewart, F. Krueger, S. Maupetit-Mehouas, P. Arnaud, S. Tomizawa, S. Andrews and G. Kelsey, “Deep sequencing and de novo assembly of the mouse oocyte transcriptome define the contribution of transcription to the DNA methylation landscape.”, Genome biology, vol. 16 (1) , pp. 209, 2015.
  • 2014
    • S. Kota, D. Lleres, T. Bouschet, R. Hirasawa, A. Marchand, C. Begon-Pescia, I. Sanli, P. Arnaud, L. Journot, M. Girardot and R. Feil, “ICR noncoding RNA expression controls imprinting and DNA replication at the Dlk1-Dio3 domain.”, Dev. Cell, vol. 31 (1) , pp. 19–33, 2014.
    • V. Romanelli, K. Nakabayashi, M. Vizoso, S. Moran, I. Iglesias-Platas, N. Sugahara, C. Simon, K. Hata, M. Esteller, F. Court and D. Monk, “Variable maternal methylation overlapping the nc886/vtRNA2-1 locus is locked between hypermethylated repeats and is frequently altered in cancer.”, Epigenetics, vol. 9 (5) , pp. 783–90, 2014.
    • F. Court, C. Tayama, V. Romanelli, A. Martin-Trujillo, I. Iglesias-Platas, K. Okamura, N. Sugahara, C. Simon, H. Moore, J. Harness, H. Keirstead, J. Sanchez-Mut, E. Kaneki, P. Lapunzina, H. Soejima, N. Wake, M. Esteller, T. Ogata, K. Hata, K. Nakabayashi and D. Monk, “Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment.”, Genome Res., vol. 24 (4) , pp. 554–69, 2014.
    • F. Court, C. Camprubi, C. Garcia, A. Guillaumet-Adkins, A. Sparago, D. Seruggia, J. Sandoval, M. Esteller, A. Martin-Trujillo, A. Riccio, L. Montoliu and D. Monk, “The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus.”, Epigenetics & chromatin, vol. 7 (1) , pp. 5, 2014.
    • J. Liang, L. Lacroix, A. Gamot, S. Cuddapah, S. Queille, P. Lhoumaud, P. Lepetit, P. Martin, J. Vogelmann, F. Court, M. Hennion, G. Micas, S. Urbach, O. Bouchez, M. Nollmann, K. Zhao, E. Emberly and O. Cuvier, “Chromatin immunoprecipitation indirect peaks highlight long-range interactions of insulator proteins and Pol II pausing.”, Molecular cell, vol. 53 (4) , pp. 672–81, 2014.
    • F. Dutheil, G. Walther, R. Chapier, G. Mnatzaganian, B. Lesourd, G. Naughton, J. Verney, A. Fogli, V. Sapin, M. Duclos, A. Vinet, P. Obert, D. Courteix and G. Lac, “Atherogenic subfractions of lipoproteins in the treatment of metabolic syndrome by physical activity and diet - the RESOLVE trial.”, Lipids in health and disease, vol. 13 , pp. 112, 2014.
    • A. Guillaumet-Adkins, J. Richter, M. Odero, J. Sandoval, X. Agirre, A. Catala, M. Esteller, F. Prosper, M. Calasanz, I. Buno, M. Kwon, F. Court, R. Siebert and D. Monk, “Hypermethylation of the alternative AWT1 promoter in hematological malignancies is a highly specific marker for acute myeloid leukemias despite high expression levels.”, Journal of hematology & oncology, vol. 7 , pp. 4, 2014.
  • 2013
    • T. Salem, T. Gomard, F. Court, G. Moquet-Torcy, F. Brockly, T. Forne and M. Piechaczyk, “Chromatin loop organization of the junb locus in mouse dendritic cells.”, Nucleic Acids Res., vol. 41 (19) , pp. 8908–25, 2013.
    • C. Camprubi, I. Iglesias-Platas, A. Martin-Trujillo, C. Salvador-Alarcon, M. Rodriguez, D. Barredo, F. Court and D. Monk, “Stability of genomic imprinting and gestational-age dynamic methylation in complicated pregnancies conceived following assisted reproductive technologies.”, Biol Reprod, vol. 89 (3) , pp. 50, 2013.
    • A. Lautrette, M. Fejjal, A. Aithssain, T. Phan, N. Caillot, A. Fogli and B. Souweine, “Comparison of three methods of diagnosis of plasma unmeasured anions in critically ill patients.”, Minerva Anestesiol, vol. 79 (10) , pp. 1164–72, 2013.
    • Y. Capri, E. Friesema, S. Kersseboom, R. Touraine, A. Monnier, E. Eymard-Pierre, V. Des Portes, G. De Michele, A. Brady, O. Boespflug-Tanguy, T. Visser and C. Vaurs-Barriere, “Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.”, Hum. Mutat., vol. 34 (7) , pp. 1018–25, 2013.
    • A. Pommier, J. Dufour, G. Alves, E. Viennois, H. De Boussac, A. Trousson, DH. Volle, F. Caira, P. Val, P. Arnaud, JM. Lobaccaro and S. Baron, “Liver x receptors protect from development of prostatic intra-epithelial neoplasia in mice.”, PLoS Genet., vol. 9 (5) , pp. e1003483, 2013.
    • F. Court, A. Martin-Trujillo, V. Romanelli, I. Garin, I. Iglesias-Platas, I. Salafsky, M. Guitart, G. Perez de Nanclares, P. Lapunzina and D. Monk, “Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.”, Hum. Mutat., vol. 34 (4) , pp. 595–602, 2013.
    • M. Borensztein, P. Monnier, F. Court, Y. Louault, M. Ripoche, L. Tiret, Z. Yao, S. Tapscott, T. Forne, D. Montarras and L. Dandolo, “Myod and H19-Igf2 locus interactions are required for diaphragm formation in the mouse.”, Development, vol. 140 (6) , pp. 1231–9, 2013.
    • I. Iglesias-Platas, F. Court, C. Camprubi, A. Sparago, A. Guillaumet-Adkins, A. Martin-Trujillo, A. Riccio, G. Moore and D. Monk, “Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop.”, Nucleic Acids Res., vol. 41 (4) , pp. 2171–9, 2013.
    • S. Maupetit-Méhouas, D. Nury and P. Arnaud, “Epigenetic Reprogramming in the Mammalian Germline”, Epigenetics and Complex Traits, pp. 3–34, 2013.
    • R. de Almeida, A. Fogli, M. Gaillard, G. Scheper, O. Boespflug-Tanguy and G. Pavitt, “A yeast purification system for human translation initiation factors eIF2 and eIF2Bepsilon and their use in the diagnosis of CACH/VWM disease.”, PLoS ONE, vol. 8 (1) , pp. e53958, 2013.
  • 2012
    • P. Combes, V. Planche, E. Eymard-Pierre, C. Sarret, D. Rodriguez, O. Boespflug-Tanguy and C. Vaurs-Barriere, “Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).”, Ann. Hum. Genet., vol. 76 (3) , pp. 261–7, 2012.
    • A. Henckel, K. Chebli, S. Kota, P. Arnaud and R. Feil, “Transcription and histone methylation changes correlate with imprint acquisition in male germ cells.”, EMBO J., vol. 31 (3) , pp. 606–15, 2012-02-01 2012.
    • A. Fogli, C. Merle, V. Roussel, R. Schiffmann, S. Ughetto, M. Theisen and O. Boespflug-Tanguy, “CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.”, PLoS ONE, vol. 7 (8) , pp. e42688, 2012.
    • A. Huyghe, L. Horzinski, A. Henaut, M. Gaillard, E. Bertini, R. Schiffmann, D. Rodriguez, Y. Dantal, O. Boespflug-Tanguy and A. Fogli, “Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.”, PLoS ONE, vol. 7 (6) , pp. e38264, 2012.
    • I. Iglesias-Platas, A. Martin-Trujillo, D. Cirillo, F. Court, A. Guillaumet-Adkins, C. Camprubi, D. Bourc'his, K. Hata, R. Feil, G. Tartaglia, P. Arnaud and D. Monk, “Characterization of novel paternal ncRNAs at the Plagl1 locus, including Hymai, predicted to interact with regulators of active chromatin.”, PLoS ONE, vol. 7 (6) , pp. e38907, 2012.
    • C. Hippert, S. Ibanes, N. Serratrice, F. Court, F. Malecaze, E. Kremer and V. Kalatzis, “Corneal transduction by intra-stromal injection of AAV vectors in vivo in the mouse and ex vivo in human explants.”, PLoS ONE, vol. 7 (4) , pp. e35318, 2012.
    • V. Tran, F. Court, A. Duputie, E. Antoine, N. Aptel, L. Milligan, F. Carbonell, M. Lelay-Taha, J. Piette, M. Weber, D. Montarras, C. Pinset, L. Dandolo, T. Forne and G. Cathala, “H19 antisense RNA can up-regulate Igf2 transcription by activation of a novel promoter in mouse myoblasts.”, PLoS ONE, vol. 7 (5) , pp. e37923, 2012.
  • 2011
    • O. Ganier, S. Bocquet, I. Peiffer, V. Brochard, P. Arnaud, A. Puy, A. Jouneau, R. Feil, J. Renard and M. Mechali, “Synergic reprogramming of mammalian cells by combined exposure to mitotic Xenopus egg extracts and transcription factors.”, Proc. Natl. Acad. Sci. U.S.A., vol. 108 (42) , pp. 17331–6, 2011.
    • C. Sarret, M. Rigal, C. Vaurs-Barriere, I. Dorboz, E. Eymard-Pierre, P. Combes, G. Giraud, R. Wanders, A. Afenjar, C. Francannet and O. Boespflug-Tanguy, “Sjogren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.”, J. Neurol. Sci., vol. 312 (1-2) , pp. 123–6, 2011.
    • F. Court, M. Baniol, H. Hagege, J. Petit, M. Lelay-Taha, F. Carbonell, M. Weber, G. Cathala and T. Forne, “Long-range chromatin interactions at the mouse Igf2/H19 locus reveal a novel paternally expressed long non-coding RNA.”, Nucleic Acids Res., vol. 39 (14) , pp. 5893–906, 2011.
    • S. Grossi, S. Regis, R. Biancheri, M. Mort, S. Lualdi, E. Bertini, G. Uziel, O. Boespflug-Tanguy, A. Simonati, F. Corsolini, E. Demir, V. Marchiani, A. Percesepe, F. Stanzial, A. Rossi, C. Vaurs-Barriere, D. Cooper and M. Filocamo, “Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.”, Orphanet J Rare Dis, vol. 6 , pp. 40, 2011.
    • C. Carra-Dalliere, L. Horzinski, X. Ayrignac, S. Vukusic, D. Rodriguez, F. Mauguiere, L. Peter, C. Goizet, F. Bouhour, C. Denier, C. Confavreux, M. Obadia, F. Blanc, J. de Seze, F. Sedel, A. Guennoc, E. Sartori, D. Laplaud, J. Antoine, A. Fogli, O. Boespflug-Tanguy and P. Labauge, “[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].”, Rev. Neurol. (Paris), vol. 167 (11) , pp. 802–11, 2011.
    • H. Ito, H. Gaubert, E. Bucher, M. Mirouze, I. Vaillant and J. Paszkowski, “An siRNA pathway prevents transgenerational retrotransposition in plants subjected to stress.”, Nature, vol. 472 (7341) , pp. 115–9, 2011.
    • O. Boespflug-Tanguy, P. Aubourg, I. Dorboz, M. Begou, G. Giraud, C. Sarret and C. Vaurs-Barriere, “Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.”, Am. J. Hum. Genet., vol. 88 (3) , pp. 392–5, 2011.
    • D. Monk, P. Arnaud, J. Frost, A. Wood, M. Cowley, A. Martin-Trujillo, A. Guillaumet-Adkins, I. Iglesias Platas, C. Camprubi, D. Bourc'his, R. Feil, G. Moore and R. Oakey, “Human imprinted retrogenes exhibit non-canonical imprint chromatin signatures and reside in non-imprinted host genes.”, Nucleic Acids Res., vol. 39 (11) , pp. 4577–86, 2011.
    • P. Combes, N. Kammoun, A. Monnier, C. Gonthier-Gueret, G. Giraud, E. Bertini, T. Chahnez, F. Fakhfakh, O. Boespflug-Tanguy and C. Vaurs-Barriere, “Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.”, Ann. Neurol., vol. 71 (1) , pp. 146–8, 2011.
    • F. Court, J. Miro, C. Braem, M. Lelay-Taha, A. Brisebarre, F. Atger, T. Gostan, M. Weber, G. Cathala and T. Forne, “Modulated contact frequencies at gene-rich loci support a statistical helix model for mammalian chromatin organization.”, Genome biology, vol. 12 (5) , pp. R42, 2011.
  • 2010
    • A. Albert, M. Gaume, S. Ughetto, V. Sapin and A. Fogli, “[Coupling proteinemia and serum protein electrophoresis: evaluation of the capillary technique (Capillarys 2, Sebia), experience from Clermont-Ferrand].”, Ann. Biol. Clin. (Paris), vol. 68 (6) , pp. 657–67, 2010.
    • L. Horzinski, L. Kantor, A. Huyghe, R. Schiffmann, O. Elroy-Stein, O. Boespflug-Tanguy and A. Fogli, “Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.”, BMC Neurol, vol. 10 , pp. 94, 2010.
    • M. Tittel-Elmer, E. Bucher, L. Broger, O. Mathieu, J. Paszkowski and I. Vaillant, “Stress-induced activation of heterochromatic transcription.”, PLoS Genet., vol. 6 (10) , pp. e1001175, 2010.
    • O. Alder, F. Lavial, A. Helness, E. Brookes, S. Pinho, A. Chandrashekran, P. Arnaud, A. Pombo, L. O'Neill and V. Azuara, “Ring1B and Suv39h1 delineate distinct chromatin states at bivalent genes during early mouse lineage commitment.”, Development, vol. 137 (15) , pp. 2483–92, 2010.
    • A. Henckel and P. Arnaud, “Genome-wide identification of new imprinted genes.”, Brief Funct Genomics, vol. 9 (4) , pp. 304–14, 2010.
    • P. Arnaud, “Genomic imprinting in germ cells: imprints are under control.”, Reproduction, vol. 140 (3) , pp. 411–23, 2010.
    • A. Fogli and P. Bulet, “Peptidomics analysis of lymphoblastoid cell lines.”, Meth. Mol. Biol., vol. 615 , pp. 247–57, 2010.
  • 2009
    • C. Sarret, P. Combes, P. Micheau, A. Gelot, O. Boespflug-Tanguy and C. Vaurs-Barriere, “Novel neuronal proteolipid protein isoforms encoded by the human myelin proteolipid protein 1 gene.”, Neuroscience, vol. 166 (2) , pp. 522–38, 2009.
    • C. Yokthongwattana, E. Bucher, M. Caikovski, I. Vaillant, J. Nicolet, O. Mittelsten Scheid and J. Paszkowski, “MOM1 and Pol-IV/V interactions regulate the intensity and specificity of transcriptional gene silencing.”, EMBO J., vol. 29 (2) , pp. 340–51, 2009.
    • P. Labauge, L. Horzinski, X. Ayrignac, P. Blanc, S. Vukusic, D. Rodriguez, F. Mauguiere, L. Peter, C. Goizet, F. Bouhour, C. Denier, C. Confavreux, M. Obadia, F. Blanc, J. de Seze, A. Fogli and O. Boespflug-Tanguy, “Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.”, Brain, vol. 132 (Pt 8) , pp. 2161–9, 2009.
    • D. Monk, P. Arnaud, J. Frost, F. Hills, P. Stanier, R. Feil and G. Moore, “Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression.”, Hum. Mol. Genet., vol. 18 (16) , pp. 3066–74, 2009.
    • A. Henckel, K. Nakabayashi, L. Sanz, R. Feil, K. Hata and P. Arnaud, “Histone methylation is mechanistically linked to DNA methylation at imprinting control regions in mammals.”, Hum. Mol. Genet., vol. 18 (18) , pp. 3375–83, 2009.
    • C. Vaurs-Barriere, M. Deville, C. Sarret, G. Giraud, V. Des Portes, J. Prats-Vinas, G. De Michele, B. Dan, A. Brady, O. Boespflug-Tanguy and R. Touraine, “Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.”, Ann. Neurol., vol. 65 (1) , pp. 114–8, 2009.
    • L. Horzinski, A. Huyghe, M. Cardoso, C. Gonthier, L. Ouchchane, R. Schiffmann, P. Blanc, O. Boespflug-Tanguy and A. Fogli, “Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.”, PLoS ONE, vol. 4 (12) , pp. e8318, 2009.
  • 2008
    • M. Bonnet-Dupeyron, P. Combes, P. Santander, F. Cailloux, O. Boespflug-Tanguy and C. Vaurs-Barriere, “PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.”, Hum. Mutat., vol. 29 (8) , pp. 1028–36, 2008.
    • D. Monk, A. Wagschal, P. Arnaud, P. Muller, L. Parker-Katiraee, D. Bourc'his, S. Scherer, R. Feil, P. Stanier and G. Moore, “Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing.”, Genome Res., vol. 18 (8) , pp. 1270–81, 2008.
    • L. Sanz, S. Chamberlain, J. Sabourin, A. Henckel, T. Magnuson, J. Hugnot, R. Feil and P. Arnaud, “A mono-allelic bivalent chromatin domain controls tissue-specific imprinting at Grb10.”, EMBO J., vol. 27 (19) , pp. 2523–32, 2008.
    • M. Bonnet-Dupeyron, P. Combes, O. Boespflug-Tanguy and C. Vaurs-Barriere, “Absence of OLIG2 mutations in patients presenting with a severe Pelizaeus-Merzbacher-like leukodystrophy associated with motor neuron dysfunction.”, Am. j. med. genet., Part B Neuropsychiatr. genet., vol. 147B (4) , pp. 538–9, 2008.
    • A. Vanderver, Y. Hathout, J. Maletkovic, E. Gordon, M. Mintz, M. Timmons, E. Hoffman, L. Horzinski, F. Niel, A. Fogli, O. Boespflug-Tanguy and R. Schiffmann, “Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder.”, Neurology, vol. 70 (23) , pp. 2226–32, 2008.
    • O. Boespflug-Tanguy, P. Labauge, A. Fogli and C. Vaurs-Barriere, “Genes involved in leukodystrophies: a glance at glial functions.”, Curr Neurol Neurosci Rep, vol. 8 (3) , pp. 217–29, 2008.
    • A. Fogli, C. Barbier, I. Cournu-Rebeix, M. Babron, F. Clerget-Darpoux, B. Fontaine and O. Boespflug-Tanguy, “No evidence for association between the EIF2B5 gene and multiple sclerosis in French families.”, Mult. Scler., vol. 14 (4) , pp. 573, 2008.
    • L. Horzinski, C. Gonthier, D. Rodriguez, C. Scherer, O. Boespflug-Tanguy and A. Fogli, “Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity.”, Ann. Hum. Genet., vol. 72 (Pt 3) , pp. 410–5, 2008.