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Items: 1 to 20 of 32

1.

A novel role for CARM1 in promoting nonsense-mediated mRNA decay: potential implications for spinal muscular atrophy.

Sanchez G, Bondy-Chorney E, Laframboise J, Paris G, Didillon A, Jasmin BJ, Côté J.

Nucleic Acids Res. 2016 Apr 7;44(6):2661-76. doi: 10.1093/nar/gkv1334.

2.

Fragile X mental retardation protein interactions with a G quadruplex structure in the 3'-untranslated region of NR2B mRNA.

Stefanovic S, DeMarco BA, Underwood A, Williams KR, Bassell GJ, Mihailescu MR.

Mol Biosyst. 2015 Dec;11(12):3222-30. doi: 10.1039/c5mb00423c.

3.

NUFIP and the HSP90/R2TP chaperone bind the SMN complex and facilitate assembly of U4-specific proteins.

Bizarro J, Dodré M, Huttin A, Charpentier B, Schlotter F, Branlant C, Verheggen C, Massenet S, Bertrand E.

Nucleic Acids Res. 2015 Oct 15;43(18):8973-89. doi: 10.1093/nar/gkv809.

4.

Developing therapies for spinal muscular atrophy.

Wertz MH, Sahin M.

Ann N Y Acad Sci. 2016 Feb;1366(1):5-19. doi: 10.1111/nyas.12813.

5.

Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons.

Dombert B, Sivadasan R, Simon CM, Jablonka S, Sendtner M.

PLoS One. 2014 Oct 22;9(10):e110846. doi: 10.1371/journal.pone.0110846.

6.
7.

Protein Hit1, a novel box C/D snoRNP assembly factor, controls cellular concentration of the scaffolding protein Rsa1 by direct interaction.

Rothé B, Saliou JM, Quinternet M, Back R, Tiotiu D, Jacquemin C, Loegler C, Schlotter F, Peña V, Eckert K, Moréra S, Dorsselaer AV, Branlant C, Massenet S, Sanglier-Cianférani S, Manival X, Charpentier B.

Nucleic Acids Res. 2014;42(16):10731-47. doi: 10.1093/nar/gku612.

8.

Assays for the identification and prioritization of drug candidates for spinal muscular atrophy.

Cherry JJ, Kobayashi DT, Lynes MM, Naryshkin NN, Tiziano FD, Zaworski PG, Rubin LL, Jarecki J.

Assay Drug Dev Technol. 2014 Aug;12(6):315-41. doi: 10.1089/adt.2014.587. Review.

9.

SMN regulates axonal local translation via miR-183/mTOR pathway.

Kye MJ, Niederst ED, Wertz MH, Gonçalves Ido C, Akten B, Dover KZ, Peters M, Riessland M, Neveu P, Wirth B, Kosik KS, Sardi SP, Monani UR, Passini MA, Sahin M.

Hum Mol Genet. 2014 Dec 1;23(23):6318-31. doi: 10.1093/hmg/ddu350.

10.

The role of miRNA in motor neuron disease.

Kye MJ, Gonçalves Ido C.

Front Cell Neurosci. 2014 Jan 30;8:15. doi: 10.3389/fncel.2014.00015.

11.

Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy.

Caillet-Boudin ML, Fernandez-Gomez FJ, Tran H, Dhaenens CM, Buee L, Sergeant N.

Front Mol Neurosci. 2014 Jan 9;6:57. doi: 10.3389/fnmol.2013.00057. Review.

12.

Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies.

Dury AY, El Fatimy R, Tremblay S, Rose TM, Côté J, De Koninck P, Khandjian EW.

PLoS Genet. 2013 Oct;9(10):e1003890. doi: 10.1371/journal.pgen.1003890.

13.

The FMRP regulon: from targets to disease convergence.

Fernández E, Rajan N, Bagni C.

Front Neurosci. 2013 Oct 24;7:191. doi: 10.3389/fnins.2013.00191. Review.

14.

Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy.

Sen A, Dimlich DN, Guruharsha KG, Kankel MW, Hori K, Yokokura T, Brachat S, Richardson D, Loureiro J, Sivasankaran R, Curtis D, Davidow LS, Rubin LL, Hart AC, Van Vactor D, Artavanis-Tsakonas S.

Proc Natl Acad Sci U S A. 2013 Jun 25;110(26):E2371-80. doi: 10.1073/pnas.1301738110.

15.

RNA-binding proteins and translational regulation in axons and growth cones.

Hörnberg H, Holt C.

Front Neurosci. 2013 May 23;7:81. doi: 10.3389/fnins.2013.00081.

16.

Increasing our understanding of human cognition through the study of Fragile X Syndrome.

Cook D, Nuro E, Murai KK.

Dev Neurobiol. 2014 Feb;74(2):147-77. doi: 10.1002/dneu.22096. Review.

17.

Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity.

Zheleznyakova GY, Voisin S, Kiselev AV, Sällman Almén M, Xavier MJ, Maretina MA, Tishchenko LI, Fredriksson R, Baranov VS, Schiöth HB.

Eur J Hum Genet. 2013 Sep;21(9):988-93. doi: 10.1038/ejhg.2012.293.

18.

The spinal muscular atrophy disease protein SMN is linked to the Golgi network.

Ting CH, Wen HL, Liu HC, Hsieh-Li HM, Li H, Lin-Chao S.

PLoS One. 2012;7(12):e51826. doi: 10.1371/journal.pone.0051826.

19.

Implication of the SMN complex in the biogenesis and steady state level of the signal recognition particle.

Piazzon N, Schlotter F, Lefebvre S, Dodré M, Méreau A, Soret J, Besse A, Barkats M, Bordonné R, Branlant C, Massenet S.

Nucleic Acids Res. 2013 Jan;41(2):1255-72. doi: 10.1093/nar/gks1224.

20.

COPI transport complexes bind to specific RNAs in neuronal cells.

Todd AG, Lin H, Ebert AD, Liu Y, Androphy EJ.

Hum Mol Genet. 2013 Feb 15;22(4):729-36. doi: 10.1093/hmg/dds480.

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