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Items: 1 to 50 of 59

1.

Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration.

Kattuah W, Rogelj B, King A, Shaw CE, Hortobágyi T, Troakes C.

Front Neurosci. 2019 Jun 4;13:551. doi: 10.3389/fnins.2019.00551. eCollection 2019.

2.

Cross-Regulation between TDP-43 and Paraspeckles Promotes Pluripotency-Differentiation Transition.

Modic M, Grosch M, Rot G, Schirge S, Lepko T, Yamazaki T, Lee FCY, Rusha E, Shaposhnikov D, Palo M, Merl-Pham J, Cacchiarelli D, Rogelj B, Hauck SM, von Mering C, Meissner A, Lickert H, Hirose T, Ule J, Drukker M.

Mol Cell. 2019 Jun 6;74(5):951-965.e13. doi: 10.1016/j.molcel.2019.03.041. Epub 2019 Apr 29.

3.

Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies.

Bajc Česnik A, Darovic S, Prpar Mihevc S, Štalekar M, Malnar M, Motaln H, Lee YB, Mazej J, Pohleven J, Grosch M, Modic M, Fonovič M, Turk B, Drukker M, Shaw CE, Rogelj B.

J Cell Sci. 2019 Mar 7;132(5). pii: jcs224303. doi: 10.1242/jcs.224303.

4.

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration.

Solomon DA, Stepto A, Au WH, Adachi Y, Diaper DC, Hall R, Rekhi A, Boudi A, Tziortzouda P, Lee YB, Smith B, Bridi JC, Spinelli G, Dearlove J, Humphrey DM, Gallo JM, Troakes C, Fanto M, Soller M, Rogelj B, Parsons RB, Shaw CE, Hortobágyi T, Hirth F.

Brain. 2018 Oct 1;141(10):2908-2924. doi: 10.1093/brain/awy241.

5.

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.

Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F.

Hum Mol Genet. 2018 Jul 15;27(14):2466-2476. doi: 10.1093/hmg/ddy151.

6.

Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients.

Vrabec K, Boštjančič E, Koritnik B, Leonardis L, Dolenc Grošelj L, Zidar J, Rogelj B, Glavač D, Ravnik-Glavač M.

Front Mol Neurosci. 2018 Apr 4;11:106. doi: 10.3389/fnmol.2018.00106. eCollection 2018.

7.

Differential expression of microRNAs and other small RNAs in muscle tissue of patients with ALS and healthy age-matched controls.

Kovanda A, Leonardis L, Zidar J, Koritnik B, Dolenc-Groselj L, Ristic Kovacic S, Curk T, Rogelj B.

Sci Rep. 2018 Apr 4;8(1):5609. doi: 10.1038/s41598-018-23139-2.

8.

Neuronal differentiation induces SNORD115 expression and is accompanied by post-transcriptional changes of serotonin receptor 2c mRNA.

Bratkovič T, Modic M, Camargo Ortega G, Drukker M, Rogelj B.

Sci Rep. 2018 Mar 23;8(1):5101. doi: 10.1038/s41598-018-23293-7.

9.

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.

Lee YB, Baskaran P, Gomez-Deza J, Chen HJ, Nishimura AL, Smith BN, Troakes C, Adachi Y, Stepto A, Petrucelli L, Gallo JM, Hirth F, Rogelj B, Guthrie S, Shaw CE.

Hum Mol Genet. 2017 Dec 15;26(24):4765-4777. doi: 10.1093/hmg/ddx350.

10.

Evasin-displaying lactic acid bacteria bind different chemokines and neutralize CXCL8 production in Caco-2 cells.

Škrlec K, Pucer Janež A, Rogelj B, Štrukelj B, Berlec A.

Microb Biotechnol. 2017 Nov;10(6):1732-1743. doi: 10.1111/1751-7915.12781. Epub 2017 Jul 24.

11.

Modelling FUS Mislocalisation in an In Vitro Model of Innervated Human Muscle.

Prpar Mihevc S, Pavlin M, Darovic S, Živin M, Podbregar M, Rogelj B, Mars T.

J Mol Neurosci. 2017 Aug;62(3-4):318-328. doi: 10.1007/s12031-017-0940-y. Epub 2017 Jun 15.

PMID:
28620838
12.

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms.

Markovinovic A, Cimbro R, Ljutic T, Kriz J, Rogelj B, Munitic I.

Prog Neurobiol. 2017 Jul;154:1-20. doi: 10.1016/j.pneurobio.2017.04.005. Epub 2017 Apr 26. Review.

PMID:
28456633
13.

The Effect of Different Types of Nanoparticles on FUS and TDP-43 Solubility and Subcellular Localization.

Lojk J, Prpar Mihevc S, Bregar VB, Pavlin M, Rogelj B.

Neurotox Res. 2017 Oct;32(3):325-339. doi: 10.1007/s12640-017-9734-9. Epub 2017 Apr 25.

PMID:
28444573
14.

TDP-43 aggregation mirrors TDP-43 knockdown, affecting the expression levels of a common set of proteins.

Prpar Mihevc S, Baralle M, Buratti E, Rogelj B.

Sci Rep. 2016 Sep 26;6:33996. doi: 10.1038/srep33996.

15.

Nuclear trafficking in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Prpar Mihevc S, Darovic S, Kovanda A, Bajc Česnik A, Župunski V, Rogelj B.

Brain. 2017 Jan;140(1):13-26. doi: 10.1093/brain/aww197. Epub 2016 Aug 6. Review.

PMID:
27497493
16.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C, Sorarù G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ; PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing Consortium; SLAGEN Consortium; NNIPPS Study Group, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hübner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH.

Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.

17.

Anti-sense DNA d(GGCCCC)n expansions in C9ORF72 form i-motifs and protonated hairpins.

Kovanda A, Zalar M, Šket P, Plavec J, Rogelj B.

Sci Rep. 2015 Dec 3;5:17944. doi: 10.1038/srep17944.

18.

Phosphorylation of C-terminal tyrosine residue 526 in FUS impairs its nuclear import.

Darovic S, Prpar Mihevc S, Župunski V, Gunčar G, Štalekar M, Lee YB, Shaw CE, Rogelj B.

J Cell Sci. 2015 Nov 15;128(22):4151-9. doi: 10.1242/jcs.176602. Epub 2015 Sep 24.

19.

Response to the letter to the editor by Kristensen MM, Helge JW and Dela F.

Režen T, Kovanda A, Eiken O, Mekjavič I, Rogelj B.

Acta Physiol (Oxf). 2015 Oct;215(2):76-8. doi: 10.1111/apha.12551. Epub 2015 Jul 31. No abstract available.

PMID:
26198423
20.

Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport.

Štalekar M, Yin X, Rebolj K, Darovic S, Troakes C, Mayr M, Shaw CE, Rogelj B.

Neuroscience. 2015 May 7;293:157-70. doi: 10.1016/j.neuroscience.2015.02.046. Epub 2015 Mar 2.

PMID:
25743254
21.

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population.

Vrabec K, Koritnik B, Leonardis L, Dolenc-Grošelj L, Zidar J, Smith B, Vance C, Shaw C, Rogelj B, Glavač D, Ravnik-Glavač M.

Neurobiol Aging. 2015 Mar;36(3):1601.e17-20. doi: 10.1016/j.neurobiolaging.2014.11.011. Epub 2014 Dec 18.

PMID:
25585530
22.

Characterization of DNA G-quadruplex species forming from C9ORF72 G4C2-expanded repeats associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Šket P, Pohleven J, Kovanda A, Štalekar M, Župunski V, Zalar M, Plavec J, Rogelj B.

Neurobiol Aging. 2015 Feb;36(2):1091-6. doi: 10.1016/j.neurobiolaging.2014.09.012. Epub 2014 Sep 28.

PMID:
25442110
23.

A serum microRNA signature for amyotrophic lateral sclersosis reveals convergent RNA processing defects and identifies presymptomatic mutation carriers.

Lee YB, Rogelj B, Shaw CE.

Brain. 2014 Nov;137(Pt 11):2875-6. doi: 10.1093/brain/awu262. No abstract available.

PMID:
25344081
24.

MicroRNA in skeletal muscle development, growth, atrophy, and disease.

Kovanda A, Režen T, Rogelj B.

Wiley Interdiscip Rev RNA. 2014 Jul-Aug;5(4):509-25. doi: 10.1002/wrna.1227. Epub 2014 May 16. Review.

PMID:
24838768
25.

Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Vatovec S, Kovanda A, Rogelj B.

Neurobiol Aging. 2014 Oct;35(10):2421.e1-2421.e12. doi: 10.1016/j.neurobiolaging.2014.04.015. Epub 2014 Apr 19. Review.

PMID:
24836899
26.

The many faces of small nucleolar RNAs.

Bratkovič T, Rogelj B.

Biochim Biophys Acta. 2014 Jun;1839(6):438-43. doi: 10.1016/j.bbagrm.2014.04.009. Epub 2014 Apr 13. Review.

PMID:
24735946
27.

Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells.

Nishimura AL, Shum C, Scotter EL, Abdelgany A, Sardone V, Wright J, Lee YB, Chen HJ, Bilican B, Carrasco M, Maniatis T, Chandran S, Rogelj B, Gallo JM, Shaw CE.

PLoS One. 2014 Mar 20;9(3):e91269. doi: 10.1371/journal.pone.0091269. eCollection 2014.

28.

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species.

Scotter EL, Vance C, Nishimura AL, Lee YB, Chen HJ, Urwin H, Sardone V, Mitchell JC, Rogelj B, Rubinsztein DC, Shaw CE.

J Cell Sci. 2014 Mar 15;127(Pt 6):1263-78. doi: 10.1242/jcs.140087. Epub 2014 Jan 14.

29.

Expression changes in human skeletal muscle miRNAs following 10 days of bed rest in young healthy males.

Režen T, Kovanda A, Eiken O, Mekjavic IB, Rogelj B.

Acta Physiol (Oxf). 2014 Mar;210(3):655-66. doi: 10.1111/apha.12228. Erratum in: Acta Physiol (Oxf). 2015 Nov;215(3):123-4.

PMID:
24410893
30.

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic.

Lee YB, Chen HJ, Peres JN, Gomez-Deza J, Attig J, Stalekar M, Troakes C, Nishimura AL, Scotter EL, Vance C, Adachi Y, Sardone V, Miller JW, Smith BN, Gallo JM, Ule J, Hirth F, Rogelj B, Houart C, Shaw CE.

Cell Rep. 2013 Dec 12;5(5):1178-86. doi: 10.1016/j.celrep.2013.10.049. Epub 2013 Nov 27.

31.

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.

Vance C, Scotter EL, Nishimura AL, Troakes C, Mitchell JC, Kathe C, Urwin H, Manser C, Miller CC, Hortobágyi T, Dragunow M, Rogelj B, Shaw CE.

Hum Mol Genet. 2013 Jul 1;22(13):2676-88. doi: 10.1093/hmg/ddt117. Epub 2013 Mar 7.

32.

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion.

Mitchell JC, McGoldrick P, Vance C, Hortobagyi T, Sreedharan J, Rogelj B, Tudor EL, Smith BN, Klasen C, Miller CC, Cooper JD, Greensmith L, Shaw CE.

Acta Neuropathol. 2013 Feb;125(2):273-88. doi: 10.1007/s00401-012-1043-z. Epub 2012 Sep 9.

33.
34.

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain.

Rogelj B, Easton LE, Bogu GK, Stanton LW, Rot G, Curk T, Zupan B, Sugimoto Y, Modic M, Haberman N, Tollervey J, Fujii R, Takumi T, Shaw CE, Ule J.

Sci Rep. 2012;2:603. doi: 10.1038/srep00603. Epub 2012 Aug 28.

35.

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.

Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE.

Eur J Hum Genet. 2013 Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13.

36.

Exploiting microRNAs for cell engineering and therapy.

Bratkovič T, Glavan G, Strukelj B, Zivin M, Rogelj B.

Biotechnol Adv. 2012 May-Jun;30(3):753-65. doi: 10.1016/j.biotechadv.2012.01.006. Epub 2012 Jan 21. Review.

PMID:
22286072
37.

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

Troakes C, Maekawa S, Wijesekera L, Rogelj B, Siklós L, Bell C, Smith B, Newhouse S, Vance C, Johnson L, Hortobágyi T, Shatunov A, Al-Chalabi A, Leigh N, Shaw CE, King A, Al-Sarraj S.

Neuropathology. 2012 Oct;32(5):505-14. doi: 10.1111/j.1440-1789.2011.01286.x. Epub 2011 Dec 19.

PMID:
22181065
38.

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS.

Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobágyi T, Shaw CE.

Acta Neuropathol. 2011 Dec;122(6):691-702. doi: 10.1007/s00401-011-0911-2. Epub 2011 Nov 19.

PMID:
22101323
39.

Analysis of alternative splicing associated with aging and neurodegeneration in the human brain.

Tollervey JR, Wang Z, Hortobágyi T, Witten JT, Zarnack K, Kayikci M, Clark TA, Schweitzer AC, Rot G, Curk T, Zupan B, Rogelj B, Shaw CE, Ule J.

Genome Res. 2011 Oct;21(10):1572-82. doi: 10.1101/gr.122226.111. Epub 2011 Aug 16.

40.

Biology and applications of small nucleolar RNAs.

Bratkovič T, Rogelj B.

Cell Mol Life Sci. 2011 Dec;68(23):3843-51. doi: 10.1007/s00018-011-0762-y. Epub 2011 Jul 12. Review.

PMID:
21748470
41.

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders.

Hortobágyi T, Troakes C, Nishimura AL, Vance C, van Swieten JC, Seelaar H, King A, Al-Sarraj S, Rogelj B, Shaw CE.

Acta Neuropathol. 2011 Apr;121(4):519-27. doi: 10.1007/s00401-011-0813-3. Epub 2011 Mar 1.

PMID:
21360076
42.

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.

Tollervey JR, Curk T, Rogelj B, Briese M, Cereda M, Kayikci M, König J, Hortobágyi T, Nishimura AL, Zupunski V, Patani R, Chandran S, Rot G, Zupan B, Shaw CE, Ule J.

Nat Neurosci. 2011 Apr;14(4):452-8. doi: 10.1038/nn.2778. Epub 2011 Feb 27.

43.

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration.

Nishimura AL, Zupunski V, Troakes C, Kathe C, Fratta P, Howell M, Gallo JM, Hortobágyi T, Shaw CE, Rogelj B.

Brain. 2010 Jun;133(Pt 6):1763-71. doi: 10.1093/brain/awq111. Epub 2010 May 14.

PMID:
20472655
44.

Expression of the neuronal adaptor protein X11alpha protects against memory dysfunction in a transgenic mouse model of Alzheimer's disease.

Mitchell JC, Perkinton MS, Yates DM, Lau KF, Rogelj B, Miller CC, McLoughlin DM.

J Alzheimers Dis. 2010;20(1):31-6. doi: 10.3233/JAD-2009-1341.

45.

X11beta rescues memory and long-term potentiation deficits in Alzheimer's disease APPswe Tg2576 mice.

Mitchell JC, Ariff BB, Yates DM, Lau KF, Perkinton MS, Rogelj B, Stephenson JD, Miller CC, McLoughlin DM.

Hum Mol Genet. 2009 Dec 1;18(23):4492-500. doi: 10.1093/hmg/ddp408. Epub 2009 Sep 10.

46.

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE.

Science. 2009 Feb 27;323(5918):1208-1211. doi: 10.1126/science.1165942.

47.

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.

Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE.

Science. 2008 Mar 21;319(5870):1668-72. doi: 10.1126/science.1154584. Epub 2008 Feb 28.

48.

Heterogeneity in the cysteine protease inhibitor clitocypin gene family.

Sabotic J, Gaser D, Rogelj B, Gruden K, Strukelj B, Brzin J.

Biol Chem. 2006 Dec;387(12):1559-66.

PMID:
17132101
49.

The X11/Mint family of adaptor proteins.

Rogelj B, Mitchell JC, Miller CC, McLoughlin DM.

Brain Res Rev. 2006 Sep;52(2):305-15. Epub 2006 Jun 9. Review.

PMID:
16764936
50.

Brain-specific small nucleolar RNAs.

Rogelj B.

J Mol Neurosci. 2006;28(2):103-9. Review.

PMID:
16679551

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