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Items: 1 to 50 of 98

1.

Repeat-associated non-AUG (RAN) translation: insights from pathology.

Banez-Coronel M, Ranum LPW.

Lab Invest. 2019 Jul;99(7):929-942. doi: 10.1038/s41374-019-0241-x. Epub 2019 Mar 27. Review.

PMID:
30918326
2.

Repeat-Associated Non-ATG Translation: Molecular Mechanisms and Contribution to Neurological Disease.

Nguyen L, Cleary JD, Ranum LPW.

Annu Rev Neurosci. 2019 Jul 8;42:227-247. doi: 10.1146/annurev-neuro-070918-050405. Epub 2019 Mar 25.

3.

Repeat-associated non-ATG (RAN) translation.

Cleary JD, Pattamatta A, Ranum LPW.

J Biol Chem. 2018 Oct 19;293(42):16127-16141. doi: 10.1074/jbc.R118.003237. Epub 2018 Sep 13.

PMID:
30213863
4.

SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.

Ayhan F, Perez BA, Shorrock HK, Zu T, Banez-Coronel M, Reid T, Furuya H, Clark HB, Troncoso JC, Ross CA, Subramony SH, Ashizawa T, Wang ET, Yachnis AT, Ranum LP.

EMBO J. 2018 Oct 1;37(19). pii: e99023. doi: 10.15252/embj.201899023. Epub 2018 Sep 11.

PMID:
30206144
5.

Repeat-Associated Non-ATG Translation in Neurological Diseases.

Zu T, Pattamatta A, Ranum LPW.

Cold Spring Harb Perspect Biol. 2018 Dec 3;10(12). pii: a033019. doi: 10.1101/cshperspect.a033019. Review.

PMID:
29891563
6.

All in the Family: Repeats and ALS/FTD.

Pattamatta A, Cleary JD, Ranum LPW.

Trends Neurosci. 2018 May;41(5):247-250. doi: 10.1016/j.tins.2018.03.010. Review.

7.

Intron retention induced by microsatellite expansions as a disease biomarker.

Sznajder ŁJ, Thomas JD, Carrell EM, Reid T, McFarland KN, Cleary JD, Oliveira R, Nutter CA, Bhatt K, Sobczak K, Ashizawa T, Thornton CA, Ranum LPW, Swanson MS.

Proc Natl Acad Sci U S A. 2018 Apr 17;115(16):4234-4239. doi: 10.1073/pnas.1716617115. Epub 2018 Apr 2.

8.

Altered levels of the splicing factor muscleblind modifies cerebral cortical function in mouse models of myotonic dystrophy.

Chen G, Carter RE, Cleary JD, Reid TS, Ranum LP, Swanson MS, Ebner TJ.

Neurobiol Dis. 2018 Apr;112:35-48. doi: 10.1016/j.nbd.2018.01.003. Epub 2018 Jan 10.

9.

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2.

Zu T, Cleary JD, Liu Y, Bañez-Coronel M, Bubenik JL, Ayhan F, Ashizawa T, Xia G, Clark HB, Yachnis AT, Swanson MS, Ranum LPW.

Neuron. 2017 Sep 13;95(6):1292-1305.e5. doi: 10.1016/j.neuron.2017.08.039.

10.

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.

Khare S, Nick JA, Zhang Y, Galeano K, Butler B, Khoshbouei H, Rayaprolu S, Hathorn T, Ranum LPW, Smithson L, Golde TE, Paucar M, Morse R, Raff M, Simon J, Nordenskjöld M, Wirdefeldt K, Rincon-Limas DE, Lewis J, Kaczmarek LK, Fernandez-Funez P, Nick HS, Waters MF.

PLoS One. 2017 May 3;12(5):e0173565. doi: 10.1371/journal.pone.0173565. eCollection 2017.

11.

Mutant Huntingtin Disrupts the Nuclear Pore Complex.

Grima JC, Daigle JG, Arbez N, Cunningham KC, Zhang K, Ochaba J, Geater C, Morozko E, Stocksdale J, Glatzer JC, Pham JT, Ahmed I, Peng Q, Wadhwa H, Pletnikova O, Troncoso JC, Duan W, Snyder SH, Ranum LPW, Thompson LM, Lloyd TE, Ross CA, Rothstein JD.

Neuron. 2017 Apr 5;94(1):93-107.e6. doi: 10.1016/j.neuron.2017.03.023.

12.

New developments in RAN translation: insights from multiple diseases.

Cleary JD, Ranum LP.

Curr Opin Genet Dev. 2017 Jun;44:125-134. doi: 10.1016/j.gde.2017.03.006. Epub 2017 Mar 30. Review.

13.

C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.

Liu Y, Pattamatta A, Zu T, Reid T, Bardhi O, Borchelt DR, Yachnis AT, Ranum LP.

Neuron. 2016 May 4;90(3):521-34. doi: 10.1016/j.neuron.2016.04.005. Epub 2016 Apr 21.

14.

RAN Translation in Huntington Disease.

Bañez-Coronel M, Ayhan F, Tarabochia AD, Zu T, Perez BA, Tusi SK, Pletnikova O, Borchelt DR, Ross CA, Margolis RL, Yachnis AT, Troncoso JC, Ranum LP.

Neuron. 2015 Nov 18;88(4):667-77. doi: 10.1016/j.neuron.2015.10.038.

15.

MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain.

Goodwin M, Mohan A, Batra R, Lee KY, Charizanis K, Fernández Gómez FJ, Eddarkaoui S, Sergeant N, Buée L, Kimura T, Clark HB, Dalton J, Takamura K, Weyn-Vanhentenryck SM, Zhang C, Reid T, Ranum LP, Day JW, Swanson MS.

Cell Rep. 2015 Aug 18;12(7):1159-68. doi: 10.1016/j.celrep.2015.07.029. Epub 2015 Aug 6.

16.

Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells.

Xia G, Gao Y, Jin S, Subramony SH, Terada N, Ranum LP, Swanson MS, Ashizawa T.

Stem Cells. 2015 Jun;33(6):1829-38. doi: 10.1002/stem.1970.

17.

Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.

Armbrust KR, Wang X, Hathorn TJ, Cramer SW, Chen G, Zu T, Kangas T, Zink AN, Öz G, Ebner TJ, Ranum LP.

J Neurosci. 2014 Jul 23;34(30):9891-904. doi: 10.1523/JNEUROSCI.0876-14.2014.

18.

Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders.

Cleary JD, Ranum LP.

Curr Opin Genet Dev. 2014 Jun;26:6-15. doi: 10.1016/j.gde.2014.03.002. Epub 2014 May 22. Review.

19.

Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion.

Pletnikova O, Sloane KL, Renton AE, Traynor BJ, Crain BJ, Reid T, Zu T, Ranum LP, Troncoso JC, Rabins PV, Onyike CU.

Neurobiol Aging. 2014 Oct;35(10):2419.e17-21. doi: 10.1016/j.neurobiolaging.2014.04.009. Epub 2014 Apr 18.

20.

Spinocerebellar Ataxia Type 8.

Ayhan F, Ikeda Y, Dalton JC, Day JW, Ranum LPW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Nov 27 [updated 2014 Apr 3].

21.

Compound loss of muscleblind-like function in myotonic dystrophy.

Lee KY, Li M, Manchanda M, Batra R, Charizanis K, Mohan A, Warren SA, Chamberlain CM, Finn D, Hong H, Ashraf H, Kasahara H, Ranum LP, Swanson MS.

EMBO Mol Med. 2013 Dec;5(12):1887-900. doi: 10.1002/emmm.201303275. Epub 2013 Oct 8.

22.

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.

Zu T, Liu Y, Bañez-Coronel M, Reid T, Pletnikova O, Lewis J, Miller TM, Harms MB, Falchook AE, Subramony SH, Ostrow LW, Rothstein JD, Troncoso JC, Ranum LP.

Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):E4968-77. doi: 10.1073/pnas.1315438110. Epub 2013 Nov 18.

23.

Repeat-associated non-ATG (RAN) translation in neurological disease.

Cleary JD, Ranum LP.

Hum Mol Genet. 2013 Oct 15;22(R1):R45-51. doi: 10.1093/hmg/ddt371. Epub 2013 Aug 4. Review.

24.

Myotonic Dystrophy Type 2.

Dalton JC, Ranum LPW, Day JW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Sep 21 [updated 2013 Jul 3].

25.

Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise.

Chamberlain CM, Ranum LP.

Hum Mol Genet. 2012 Nov 1;21(21):4645-54. doi: 10.1093/hmg/dds306. Epub 2012 Jul 30.

26.

GGCCTG repeats put a hex on Purkinje cells and motor neurons in SCA36.

Ashizawa T, Ranum LP.

Neurology. 2012 Jul 24;79(4):302-3. doi: 10.1212/WNL.0b013e31826043d9. Epub 2012 Jun 27. No abstract available.

PMID:
22744663
27.

C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan.

Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, Kokubo Y, Kuzuhara S, Ranum LP, Tamaoki T, Ichikawa Y, Date H, Goto J, Tsuji S.

Arch Neurol. 2012 Sep;69(9):1154-8. doi: 10.1001/archneurol.2012.1219.

PMID:
22637429
28.

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.

Martins S, Soong BW, Wong VC, Giunti P, Stevanin G, Ranum LP, Sasaki H, Riess O, Tsuji S, Coutinho P, Amorim A, Sequeiros J, Nicholson GA.

Arch Neurol. 2012 Jun;69(6):746-51. doi: 10.1001/archneurol.2011.2504.

PMID:
22351852
29.

[Double the trouble: bidirectional expression of the SCA8 CAG/CTG expansion mutation - evidence for RNA and protein gain of function effects].

Ranum LP, Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner T, Swanson MS.

Rinsho Shinkeigaku. 2010 Nov;50(11):982-3. Japanese. No abstract available.

PMID:
21921535
30.

Clinical and genetic features of spinocerebellar ataxia type 8.

Ikeda Y, Ranum LP, Day JW.

Handb Clin Neurol. 2012;103:493-505. doi: 10.1016/B978-0-444-51892-7.00031-0. Review. No abstract available.

PMID:
21827909
31.

Spinocerebellar ataxia type 5.

Dick KA, Ikeda Y, Day JW, Ranum LP.

Handb Clin Neurol. 2012;103:451-9. doi: 10.1016/B978-0-444-51892-7.00028-0. Review.

PMID:
21827906
32.

Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).

Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, Minassian NA, Papazian DM, Pulst SM.

PLoS One. 2011 Mar 29;6(3):e17811. doi: 10.1371/journal.pone.0017811.

33.

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.

Coenen MJ, Tieleman AA, Schijvenaars MM, Leferink M, Ranum LP, Scheffer H, van Engelen BG.

Eur J Hum Genet. 2011 May;19(5):567-70. doi: 10.1038/ejhg.2010.233. Epub 2011 Jan 12.

34.

Non-ATG-initiated translation directed by microsatellite expansions.

Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, Margolis J, Peterson M, Markowski TW, Ingram MA, Nan Z, Forster C, Low WC, Schoser B, Somia NV, Clark HB, Schmechel S, Bitterman PB, Gourdon G, Swanson MS, Moseley M, Ranum LP.

Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):260-5. doi: 10.1073/pnas.1013343108. Epub 2010 Dec 20.

35.

Abraham lincoln may have had sca type 5.

Ranum LP, Krueger KA, Schut LJ.

Neurology. 2010 Jun 1;74(22):1836-7; author reply 1837-8. doi: 10.1212/01.wnl.0000380855.61880.4f. No abstract available.

PMID:
20513822
36.

Molecular genetic advances in neurological disease: special review issue.

La Spada A, Ranum LP.

Hum Mol Genet. 2010 Apr 15;19(R1):R1-3. doi: 10.1093/hmg/ddq193. No abstract available.

37.

Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.

Lorenzo DN, Li MG, Mische SE, Armbrust KR, Ranum LP, Hays TS.

J Cell Biol. 2010 Apr 5;189(1):143-58. doi: 10.1083/jcb.200905158.

38.

RNA gain-of-function in spinocerebellar ataxia type 8.

Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, Swanson MS, Ranum LP.

PLoS Genet. 2009 Aug;5(8):e1000600. doi: 10.1371/journal.pgen.1000600. Epub 2009 Aug 14.

39.

SNP haplotype mapping in a small ALS family.

Krueger KA, Tsuji S, Fukuda Y, Takahashi Y, Goto J, Mitsui J, Ishiura H, Dalton JC, Miller MB, Day JW, Ranum LP.

PLoS One. 2009 May 25;4(5):e5687. doi: 10.1371/journal.pone.0005687.

40.

Dominant non-coding repeat expansions in human disease.

Dick KA, Margolis JM, Day JW, Ranum LPW.

Genome Dyn. 2006;1:67-83. doi: 10.1159/000092501. Review.

PMID:
18724054
41.

Mutagenic roles of DNA "repair" proteins in antibody diversity and disease-associated trinucleotide repeat instability.

Slean MM, Panigrahi GB, Ranum LP, Pearson CE.

DNA Repair (Amst). 2008 Jul 1;7(7):1135-54. doi: 10.1016/j.dnarep.2008.03.014. Epub 2008 May 16. Review.

PMID:
18485833
42.

Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.

Ikeda Y, Daughters RS, Ranum LP.

Cerebellum. 2008;7(2):150-8. doi: 10.1007/s12311-008-0010-7.

PMID:
18418692
43.

Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.

Saito T, Amakusa Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LP, Ohno K, Matsuura T.

Neurogenetics. 2008 Feb;9(1):61-3. Epub 2007 Dec 5.

PMID:
18057971
44.

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, Jardim LB, Giunti P, Riess O, Ranum LP, Brice A, Rouleau GA, Coutinho P, Amorim A, Sequeiros J.

Arch Neurol. 2007 Oct;64(10):1502-8.

PMID:
17923634
45.

Gene symbol: SCN8A. Disease: Ataxia. Accession #Hd0520.

Meisler MH, Trudeau MM, Dalton JC, Day JW, Ranum LP.

Hum Genet. 2006 Feb;118(6):776. No abstract available.

PMID:
17297687
46.

Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5.

Lorenzo DN, Forrest SM, Ikeda Y, Dick KA, Ranum LP, Knight MA.

Neurology. 2006 Dec 12;67(11):2084-5. No abstract available.

PMID:
17159129
47.

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, Chen G, Weatherspoon MR, Clark HB, Ebner TJ, Day JW, Ranum LP.

Nat Genet. 2006 Jul;38(7):758-69. Epub 2006 Jun 25.

PMID:
16804541
48.

RNA-mediated neuromuscular disorders.

Ranum LP, Cooper TA.

Annu Rev Neurosci. 2006;29:259-77. Review.

PMID:
16776586
49.

140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management.

Udd B, Meola G, Krahe R, Thornton C, Ranum LP, Bassez G, Kress W, Schoser B, Moxley R.

Neuromuscul Disord. 2006 Jun;16(6):403-13. Epub 2006 May 8. No abstract available.

PMID:
16684600
50.

DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression.

Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP.

Hum Mol Genet. 2006 Jun 1;15(11):1808-15. Epub 2006 Apr 19.

PMID:
16624843

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