Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 37

1.

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.

Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N.

Nat Commun. 2018 May 22;9(1):2009. doi: 10.1038/s41467-018-04370-x.

2.

Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy.

Chakraborty M, Sellier C, Ney M, Pascal V, Charlet-Berguerand N, Artero R, Llamusi B.

Dis Model Mech. 2018 Apr 23;11(4). pii: dmm032557. doi: 10.1242/dmm.032557. Erratum in: Dis Model Mech. 2018 May 18;11(5):.

3.

Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome.

Glineburg MR, Todd PK, Charlet-Berguerand N, Sellier C.

Brain Res. 2018 Aug 15;1693(Pt A):43-54. doi: 10.1016/j.brainres.2018.02.006. Epub 2018 Feb 14.

4.

A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.

Okutman O, Muller J, Skory V, Garnier JM, Gaucherot A, Baert Y, Lamour V, Serdarogullari M, Gultomruk M, Röpke A, Kliesch S, Herbepin V, Aknin I, Benkhalifa M, Teletin M, Bakircioglu E, Goossens E, Charlet-Berguerand N, Bahceci M, Tüttelmann F, Viville S.

J Assist Reprod Genet. 2017 May;34(5):683-694. doi: 10.1007/s10815-017-0900-z. Epub 2017 Apr 11.

5.

Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31.

Ishiguro T, Sato N, Ueyama M, Fujikake N, Sellier C, Kanegami A, Tokuda E, Zamiri B, Gall-Duncan T, Mirceta M, Furukawa Y, Yokota T, Wada K, Taylor JP, Pearson CE, Charlet-Berguerand N, Mizusawa H, Nagai Y, Ishikawa K.

Neuron. 2017 Apr 5;94(1):108-124.e7. doi: 10.1016/j.neuron.2017.02.046. Epub 2017 Mar 23.

6.

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

Sellier C, Buijsen RAM, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N.

Neuron. 2017 Jan 18;93(2):331-347. doi: 10.1016/j.neuron.2016.12.016. Epub 2017 Jan 5.

7.

Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

Hukema RK, Riemslagh FW, Melhem S, van der Linde HC, Severijnen LW, Edbauer D, Maas A, Charlet-Berguerand N, Willemsen R, van Swieten JC.

Acta Neuropathol Commun. 2016 Dec 9;4(1):129. No abstract available.

8.

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.

Ciura S, Sellier C, Campanari ML, Charlet-Berguerand N, Kabashi E.

Autophagy. 2016 Aug 2;12(8):1406-8. doi: 10.1080/15548627.2016.1189070. Epub 2016 May 31.

9.

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.

Sellier C, Campanari ML, Julie Corbier C, Gaucherot A, Kolb-Cheynel I, Oulad-Abdelghani M, Ruffenach F, Page A, Ciura S, Kabashi E, Charlet-Berguerand N.

EMBO J. 2016 Jun 15;35(12):1276-97. doi: 10.15252/embj.201593350. Epub 2016 Apr 21.

10.

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.

Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino Y, Arandel L, Jollet A, Thibault C, Philipps M, Vicaire S, Jost B, Udd B, Day JW, Duboc D, Wahbi K, Matsumura T, Fujimura H, Mochizuki H, Deryckere F, Kimura T, Nukina N, Ishiura S, Lacroix V, Campan-Fournier A, Navratil V, Chautard E, Auboeuf D, Horie M, Imoto K, Lee KY, Swanson MS, Lopez de Munain A, Inada S, Itoh H, Nakazawa K, Ashihara T, Wang E, Zimmer T, Furling D, Takahashi MP, Charlet-Berguerand N.

Nat Commun. 2016 Apr 11;7:11067. doi: 10.1038/ncomms11067.

11.

Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency.

Buijsen RA, Visser JA, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, Sherman SL, Berman RF, Willemsen R, Hukema RK.

Hum Reprod. 2016 Jan;31(1):158-68. doi: 10.1093/humrep/dev280. Epub 2015 Nov 3.

12.

Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction.

Chakraborty M, Selma-Soriano E, Magny E, Couso JP, Pérez-Alonso M, Charlet-Berguerand N, Artero R, Llamusi B.

Dis Model Mech. 2015 Dec;8(12):1569-78. doi: 10.1242/dmm.021428. Epub 2015 Oct 29.

13.

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.

Hukema RK, Buijsen RA, Schonewille M, Raske C, Severijnen LA, Nieuwenhuizen-Bakker I, Verhagen RF, van Dessel L, Maas A, Charlet-Berguerand N, De Zeeuw CI, Hagerman PJ, Berman RF, Willemsen R.

Hum Mol Genet. 2015 Sep 1;24(17):4948-57. doi: 10.1093/hmg/ddv216. Epub 2015 Jun 9.

14.

A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

Hukema RK, Riemslagh FW, Melhem S, van der Linde HC, Severijnen LA, Edbauer D, Maas A, Charlet-Berguerand N, Willemsen R, van Swieten JC.

Acta Neuropathol Commun. 2014 Dec 13;2:166. doi: 10.1186/s40478-014-0166-y. No abstract available. Retraction in: Acta Neuropathol Commun. 2016 Dec 9;4(1):129.

15.

FXTAS: size does matter!

Sellier C, Charlet-Berguerand N.

Cell Cycle. 2014;13(21):3319. doi: 10.4161/15384101.2014.972920. No abstract available.

16.

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome.

Buijsen RA, Sellier C, Severijnen LA, Oulad-Abdelghani M, Verhagen RF, Berman RF, Charlet-Berguerand N, Willemsen R, Hukema RK.

Acta Neuropathol Commun. 2014 Nov 26;2:162. doi: 10.1186/s40478-014-0162-2. No abstract available.

17.

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.

Falcone S, Roman W, Hnia K, Gache V, Didier N, Lainé J, Auradé F, Marty I, Nishino I, Charlet-Berguerand N, Romero NB, Marazzi G, Sassoon D, Laporte J, Gomes ER.

EMBO Mol Med. 2014 Nov;6(11):1455-75. doi: 10.15252/emmm.201404436.

18.

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.

Sellier C, Usdin K, Pastori C, Peschansky VJ, Tassone F, Charlet-Berguerand N.

J Neurodev Disord. 2014;6(1):23. doi: 10.1186/1866-1955-6-23. Epub 2014 Jul 30. Review.

19.

Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.

Sellier C, Hwang VJ, Dandekar R, Durbin-Johnson B, Charlet-Berguerand N, Ander BP, Sharp FR, Angkustsiri K, Simon TJ, Tassone F.

PLoS One. 2014 Aug 1;9(8):e103884. doi: 10.1371/journal.pone.0103884. eCollection 2014.

20.

Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.

Carpentier C, Ghanem D, Fernandez-Gomez FJ, Jumeau F, Philippe JV, Freyermuth F, Labudeck A, Eddarkaoui S, Dhaenens CM, Holt I, Behm-Ansmant I, Marmier-Gourrier N, Branlant C, Charlet-Berguerand N, Marie J, Schraen-Maschke S, Buée L, Sergeant N, Caillet-Boudin ML.

Biochim Biophys Acta. 2014 Apr;1842(4):654-64. doi: 10.1016/j.bbadis.2014.01.004. Epub 2014 Jan 14.

21.

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.

Almeida S, Gascon E, Tran H, Chou HJ, Gendron TF, Degroot S, Tapper AR, Sellier C, Charlet-Berguerand N, Karydas A, Seeley WW, Boxer AL, Petrucelli L, Miller BL, Gao FB.

Acta Neuropathol. 2013 Sep;126(3):385-99. doi: 10.1007/s00401-013-1149-y. Epub 2013 Jul 9. Erratum in: Acta Neuropathol. 2014 Jun;127(6):941.

22.

CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome.

Todd PK, Oh SY, Krans A, He F, Sellier C, Frazer M, Renoux AJ, Chen KC, Scaglione KM, Basrur V, Elenitoba-Johnson K, Vonsattel JP, Louis ED, Sutton MA, Taylor JP, Mills RE, Charlet-Berguerand N, Paulson HL.

Neuron. 2013 May 8;78(3):440-55. doi: 10.1016/j.neuron.2013.03.026. Epub 2013 Apr 18. Erratum in: Neuron. 2013 Jul 24;79(2):402.

23.

Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome.

Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, Alunni V, Moine H, Thibault C, Page A, Tassone F, Willemsen R, Disney MD, Hagerman PJ, Todd PK, Charlet-Berguerand N.

Cell Rep. 2013 Mar 28;3(3):869-80. doi: 10.1016/j.celrep.2013.02.004. Epub 2013 Mar 7.

24.

A small molecule that targets r(CGG)(exp) and improves defects in fragile X-associated tremor ataxia syndrome.

Disney MD, Liu B, Yang WY, Sellier C, Tran T, Charlet-Berguerand N, Childs-Disney JL.

ACS Chem Biol. 2012 Oct 19;7(10):1711-8. doi: 10.1021/cb300135h. Epub 2012 Sep 4.

25.

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy.

Rau F, Freyermuth F, Fugier C, Villemin JP, Fischer MC, Jost B, Dembele D, Gourdon G, Nicole A, Duboc D, Wahbi K, Day JW, Fujimura H, Takahashi MP, Auboeuf D, Dreumont N, Furling D, Charlet-Berguerand N.

Nat Struct Mol Biol. 2011 Jun 19;18(7):840-5. doi: 10.1038/nsmb.2067.

PMID:
21685920
26.

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, Lopez de Munain A, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N.

Nat Med. 2011 Jun;17(6):720-5. doi: 10.1038/nm.2374. Epub 2011 May 29.

PMID:
21623381
27.

Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoforms.

Tran H, Gourrier N, Lemercier-Neuillet C, Dhaenens CM, Vautrin A, Fernandez-Gomez FJ, Arandel L, Carpentier C, Obriot H, Eddarkaoui S, Delattre L, Van Brussels E, Holt I, Morris GE, Sablonnière B, Buée L, Charlet-Berguerand N, Schraen-Maschke S, Furling D, Behm-Ansmant I, Branlant C, Caillet-Boudin ML, Sergeant N.

J Biol Chem. 2011 May 6;286(18):16435-46. doi: 10.1074/jbc.M110.194928. Epub 2011 Mar 18.

28.

Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing.

Dhaenens CM, Tran H, Frandemiche ML, Carpentier C, Schraen-Maschke S, Sistiaga A, Goicoechea M, Eddarkaoui S, Van Brussels E, Obriot H, Labudeck A, Gevaert MH, Fernandez-Gomez F, Charlet-Berguerand N, Deramecourt V, Maurage CA, Buée L, Lopez de Munain A, Sablonnière B, Caillet-Boudin ML, Sergeant N.

Biochim Biophys Acta. 2011 Jul;1812(7):732-42. doi: 10.1016/j.bbadis.2011.03.010. Epub 2011 Mar 23.

29.

CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3.

Dujardin G, Buratti E, Charlet-Berguerand N, Martins de Araujo M, Mbopda A, Le Jossic-Corcos C, Pagani F, Ferec C, Corcos L.

Nucleic Acids Res. 2010 Nov;38(20):7273-85. doi: 10.1093/nar/gkq573. Epub 2010 Jul 14.

30.

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients.

Sellier C, Rau F, Liu Y, Tassone F, Hukema RK, Gattoni R, Schneider A, Richard S, Willemsen R, Elliott DJ, Hagerman PJ, Charlet-Berguerand N.

EMBO J. 2010 Apr 7;29(7):1248-61. doi: 10.1038/emboj.2010.21. Epub 2010 Feb 25.

31.

Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats.

Dhaenens CM, Schraen-Maschke S, Tran H, Vingtdeux V, Ghanem D, Leroy O, Delplanque J, Vanbrussel E, Delacourte A, Vermersch P, Maurage CA, Gruffat H, Sergeant A, Mahadevan MS, Ishiura S, Buée L, Cooper TA, Caillet-Boudin ML, Charlet-Berguerand N, Sablonnière B, Sergeant N.

Exp Neurol. 2008 Apr;210(2):467-78. doi: 10.1016/j.expneurol.2007.11.020. Epub 2007 Dec 4.

PMID:
18177861
32.

RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors.

Charlet-Berguerand N, Feuerhahn S, Kong SE, Ziserman H, Conaway JW, Conaway R, Egly JM.

EMBO J. 2006 Nov 29;25(23):5481-91. Epub 2006 Nov 16.

33.

Expression of GFRalpha1 receptor splicing variants with different biochemical properties is modulated during kidney development.

Charlet-Berguerand N, Le Hir H, Incoronato M, di Porzio U, Yu Y, Jing S, de Franciscis V, Thermes C.

Cell Signal. 2004 Dec;16(12):1425-34.

PMID:
15381258
34.

Targeted delivery of adenoviral vectors by cytotoxic T cells.

Yotnda P, Savoldo B, Charlet-Berguerand N, Rooney C, Brenner M.

Blood. 2004 Oct 15;104(8):2272-80. Epub 2004 May 25.

35.

5'-End RET splicing: absence of variants in normal tissues and intron retention in pheochromocytomas.

Le Hir H, Charlet-Berguerand N, de Franciscis V, Thermes C.

Oncology. 2002;63(1):84-91.

PMID:
12187076
36.

Relative expression of the RET9 and RET51 isoforms in human pheochromocytomas.

Le Hir H, Charlet-Berguerand N, Gimenez-Roqueplo A, Mannelli M, Plouin P, de Franciscis V, Thermes C.

Oncology. 2000 May;58(4):311-8.

PMID:
10838497
37.

High levels of tyrosine phosphorylated proto-ret in sporadic phenochromocytomas.

Le Hir H, Colucci-D'Amato LG, Charlet-Berguerand N, Plouin PF, Bertagna X, de Franciscis V, Thermes C.

Cancer Res. 2000 Mar 1;60(5):1365-70.

Supplemental Content

Loading ...
Support Center