Shelbourne PF - Search Results

1

Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain.

Shelbourne PF, Keller-McGandy C, Bi WL, Yoon SR, Dubeau L, Veitch NJ, Vonsattel JP, Wexler NS; US-Venezuela Collaborative Research Group; Arnheim N, Augood SJ. Shelbourne PF, et al. Hum Mol Genet. 2007 May 15;16(10):1133-42. doi: 10.1093/hmg/ddm054. Epub 2007 Apr 4. Hum Mol Genet. 2007. PMID: 17409200

2

Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage.

Kuhn A, Goldstein DR, Hodges A, Strand AD, Sengstag T, Kooperberg C, Becanovic K, Pouladi MA, Sathasivam K, Cha JH, Hannan AJ, Hayden MR, Leavitt BR, Dunnett SB, Ferrante RJ, Albin R, Shelbourne P, Delorenzi M, Augood SJ, Faull RL, Olson JM, Bates GP, Jones L, Luthi-Carter R. Kuhn A, et al. Hum Mol Genet. 2007 Aug 1;16(15):1845-61. doi: 10.1093/hmg/ddm133. Epub 2007 May 21. Hum Mol Genet. 2007. PMID: 17519223

3

Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease.

Veitch NJ, Ennis M, McAbney JP; US-Venezuela Collaborative Research Project; Shelbourne PF, Monckton DG. Veitch NJ, et al. Among authors: shelbourne pf. DNA Repair (Amst). 2007 Jun 1;6(6):789-96. doi: 10.1016/j.dnarep.2007.01.002. Epub 2007 Feb 12. DNA Repair (Amst). 2007. PMID: 17293170

4

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis.

Kennedy L, Evans E, Chen CM, Craven L, Detloff PJ, Ennis M, Shelbourne PF. Kennedy L, et al. Among authors: shelbourne pf. Hum Mol Genet. 2003 Dec 15;12(24):3359-67. doi: 10.1093/hmg/ddg352. Epub 2003 Oct 21. Hum Mol Genet. 2003. PMID: 14570710

5

Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?

Kennedy L, Shelbourne PF. Kennedy L, et al. Among authors: shelbourne pf. Hum Mol Genet. 2000 Oct 12;9(17):2539-44. doi: 10.1093/hmg/9.17.2539. Hum Mol Genet. 2000. PMID: 11030759

6

Impaired synaptic plasticity in mice carrying the Huntington's disease mutation.

Usdin MT, Shelbourne PF, Myers RM, Madison DV. Usdin MT, et al. Among authors: shelbourne pf. Hum Mol Genet. 1999 May;8(5):839-46. doi: 10.1093/hmg/8.5.839. Hum Mol Genet. 1999. PMID: 10196373

7

A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice.

Shelbourne PF, Killeen N, Hevner RF, Johnston HM, Tecott L, Lewandoski M, Ennis M, Ramirez L, Li Z, Iannicola C, Littman DR, Myers RM. Shelbourne PF, et al. Hum Mol Genet. 1999 May;8(5):763-74. doi: 10.1093/hmg/8.5.763. Hum Mol Genet. 1999. PMID: 10196365

8

MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice.

Tomé S, Manley K, Simard JP, Clark GW, Slean MM, Swami M, Shelbourne PF, Tillier ER, Monckton DG, Messer A, Pearson CE. Tomé S, et al. Among authors: shelbourne pf. PLoS Genet. 2013;9(2):e1003280. doi: 10.1371/journal.pgen.1003280. Epub 2013 Feb 28. PLoS Genet. 2013. PMID: 23468640 Free PMC article.

9

Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity.

Li H, Li SH, Johnston H, Shelbourne PF, Li XJ. Li H, et al. Among authors: shelbourne pf. Nat Genet. 2000 Aug;25(4):385-9. doi: 10.1038/78054. Nat Genet. 2000. PMID: 10932179

10

Huntingtin aggregate-associated axonal degeneration is an early pathological event in Huntington's disease mice.

Li H, Li SH, Yu ZX, Shelbourne P, Li XJ. Li H, et al. J Neurosci. 2001 Nov 1;21(21):8473-81. doi: 10.1523/JNEUROSCI.21-21-08473.2001. J Neurosci. 2001. PMID: 11606636 Free PMC article.

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