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Items: 1 to 20 of 30

1.

Aptamers Binding to c-Met Inhibiting Tumor Cell Migration.

Piater B, Doerner A, Guenther R, Kolmar H, Hock B.

PLoS One. 2015 Dec 11;10(12):e0142412. doi: 10.1371/journal.pone.0142412. eCollection 2015.

2.

Many obesity-associated SNPs strongly associate with DNA methylation changes at proximal promoters and enhancers.

Voisin S, Almén MS, Zheleznyakova GY, Lundberg L, Zarei S, Castillo S, Eriksson FE, Nilsson EK, Blüher M, Böttcher Y, Kovacs P, Klovins J, Rask-Andersen M, Schiöth HB.

Genome Med. 2015 Oct 8;7:103. doi: 10.1186/s13073-015-0225-4.

3.

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.

Licchetta L, Bisulli F, Fietz M, Valentino ML, Morbin M, Mostacci B, Oliver KL, Berkovic SF, Tinuper P.

Eur J Med Genet. 2015 Oct;58(10):540-4. doi: 10.1016/j.ejmg.2015.09.002. Epub 2015 Sep 7.

PMID:
26360874
4.

RNAi-mediated knockdown of the CLN3 gene inhibits proliferation and promotes apoptosis in drug-resistant ovarian cancer cells.

Mao D, Che J, Han S, Zhao H, Zhu Y, Zhu H.

Mol Med Rep. 2015 Nov;12(5):6635-41. doi: 10.3892/mmr.2015.4238. Epub 2015 Aug 21.

5.

Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.

Chandrachud U, Walker MW, Simas AM, Heetveld S, Petcherski A, Klein M, Oh H, Wolf P, Zhao WN, Norton S, Haggarty SJ, Lloyd-Evans E, Cotman SL.

J Biol Chem. 2015 Jun 5;290(23):14361-80. doi: 10.1074/jbc.M114.621706. Epub 2015 Apr 15.

6.

A Review of Secondary Photoreceptor Degenerations in Systemic Disease.

Mysore N, Koenekoop J, Li S, Ren H, Keser V, Lopez-Solache I, Koenekoop RK.

Cold Spring Harb Perspect Med. 2014 Dec 4;5(11). pii: a025825. doi: 10.1101/cshperspect.a025825. Review.

PMID:
25475108
7.

Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.

Bergholz R, Kohlschütter A, Schulz A, Hubert W, Rüther K.

Graefes Arch Clin Exp Ophthalmol. 2015 Aug;253(8):1245-50. doi: 10.1007/s00417-014-2814-0. Epub 2014 Oct 22.

PMID:
25338278
8.

Loss of Cln3 function in the social amoeba Dictyostelium discoideum causes pleiotropic effects that are rescued by human CLN3.

Huber RJ, Myre MA, Cotman SL.

PLoS One. 2014 Oct 17;9(10):e110544. doi: 10.1371/journal.pone.0110544. eCollection 2014.

9.

3,6-Epidioxy-1,10-bisaboladiene inhibits G1 -specific transcription through Swi4/Swi6 and Mbp1/Swi6 via the Hog1 stress pathway in yeast.

Imamura Y, Yukawa M, Ueno M, Kimura K, Tsuchiya E.

FEBS J. 2014 Oct;281(20):4612-21. doi: 10.1111/febs.12965. Epub 2014 Sep 6.

10.

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M.

Neurology. 2014 Jun 10;82(23):2072-6. doi: 10.1212/WNL.0000000000000490. Epub 2014 May 14.

11.

CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events.

Schultz ML, Tecedor L, Stein CS, Stamnes MA, Davidson BL.

PLoS One. 2014 May 2;9(5):e96647. doi: 10.1371/journal.pone.0096647. eCollection 2014.

12.

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E.

Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. Epub 2014 Mar 13.

PMID:
24625443
13.

Effect of CLN3 silencing by RNA interference on the proliferation and apoptosis of human colorectal cancer cells.

Zhu X, Huang Z, Chen Y, Zhou J, Hu S, Zhi Q, Song S, Wang Y, Wan D, Gu W, Zhou H, Zhang B, Cao W, He S.

Biomed Pharmacother. 2014 Apr;68(3):253-8. doi: 10.1016/j.biopha.2013.12.010. Epub 2014 Jan 15.

PMID:
24556023
14.

Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene.

Sondhi D, Scott EC, Chen A, Hackett NR, Wong AM, Kubiak A, Nelvagal HR, Pearse Y, Cotman SL, Cooper JD, Crystal RG.

Hum Gene Ther. 2014 Mar;25(3):223-39. doi: 10.1089/hum.2012.253. Epub 2014 Mar 4.

15.

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, Crystal RG, Reinhardt P, Sterneckert J, Schöler H, Haggarty SJ, Storch A, Hermann A, Cotman SL.

Hum Mol Genet. 2014 Apr 15;23(8):2005-22. doi: 10.1093/hmg/ddt596. Epub 2013 Nov 23.

16.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, Zaneveld JE, Salvo JS, Siddiqui S, Mao L, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Wen C, Flagg K, Ferreyra H, Pei J, Khan A, Ren H, Wang K, Lopez I, Qamar R, Zenteno JC, Ayala-Ramirez R, Buentello-Volante B, Fu Q, Simpson DA, Li Y, Sui R, Silvestri G, Daiger SP, Koenekoop RK, Zhang K, Chen R.

Hum Genet. 2014 Mar;133(3):331-45. doi: 10.1007/s00439-013-1381-5. Epub 2013 Oct 24.

17.

Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype.

Xiong J, Kielian T.

J Neurochem. 2013 Oct;127(2):245-58. doi: 10.1111/jnc.12385. Epub 2013 Aug 22.

18.

A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.

Drack AV, Miller JN, Pearce DA.

J Child Neurol. 2013 Sep;28(9):1112-6. doi: 10.1177/0883073813494812. Epub 2013 Jul 22.

PMID:
23877479
19.

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

Pebrel-Richard C, Debost-Legrand A, Eymard-Pierre E, Greze V, Kemeny S, Gay-Bellile M, Gouas L, Tchirkov A, Vago P, Goumy C, Francannet C.

Eur J Hum Genet. 2014 Mar;22(3):369-73. doi: 10.1038/ejhg.2013.141. Epub 2013 Jul 17.

20.

Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3.

Getty A, Kovács AD, Lengyel-Nelson T, Cardillo A, Hof C, Chan CH, Pearce DA.

PLoS One. 2013 Jun 20;8(6):e66203. doi: 10.1371/journal.pone.0066203. Print 2013.

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