Perkins EM - Search Results

1

Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.

Clarkson YL, Gillespie T, Perkins EM, Lyndon AR, Jackson M. Clarkson YL, et al. Among authors: perkins em. Hum Mol Genet. 2010 Sep 15;19(18):3634-41. doi: 10.1093/hmg/ddq279. Epub 2010 Jul 5. Hum Mol Genet. 2010. PMID: 20603325 Free PMC article.

2

Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.

Perkins EM, Clarkson YL, Sabatier N, Longhurst DM, Millward CP, Jack J, Toraiwa J, Watanabe M, Rothstein JD, Lyndon AR, Wyllie DJ, Dutia MB, Jackson M. Perkins EM, et al. J Neurosci. 2010 Apr 7;30(14):4857-67. doi: 10.1523/JNEUROSCI.6065-09.2010. J Neurosci. 2010. PMID: 20371805 Free PMC article.

3

β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.

Clarkson YL, Perkins EM, Cairncross CJ, Lyndon AR, Skehel PA, Jackson M. Clarkson YL, et al. Among authors: perkins em. Hum Mol Genet. 2014 Jul 15;23(14):3875-82. doi: 10.1093/hmg/ddu103. Epub 2014 Mar 6. Hum Mol Genet. 2014. PMID: 24603075 Free PMC article.

4

Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST.

Perkins EM, Suminaite D, Clarkson YL, Lee SK, Lyndon AR, Rothstein JD, Wyllie DJ, Tanaka K, Jackson M. Perkins EM, et al. Hum Mol Genet. 2016 Oct 15;25(20):4448-4461. doi: 10.1093/hmg/ddw274. Hum Mol Genet. 2016. PMID: 28173092 Free PMC article.

5

Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells.

Perkins EM, Clarkson YL, Suminaite D, Lyndon AR, Tanaka K, Rothstein JD, Skehel PA, Wyllie DJA, Jackson M. Perkins EM, et al. Hum Mol Genet. 2018 Aug 1;27(15):2614-2627. doi: 10.1093/hmg/ddy169. Hum Mol Genet. 2018. PMID: 29741614 Free PMC article.

6

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, Suminaite D, Hope J, Baker I, Gregory L, Green A, Allan C, Lamble S, Jayawant S, Quaghebeur G, Cader MZ, Hughes S, Armstrong RJ, Kanapin A, Rimmer A, Lunter G, Mathieson I, Cazier JB, Buck D, Taylor JC, Bentley D, McVean G, Donnelly P, Knight SJ, Jackson M, Ragoussis J, Németh AH. Lise S, et al. PLoS Genet. 2012;8(12):e1003074. doi: 10.1371/journal.pgen.1003074. Epub 2012 Dec 6. PLoS Genet. 2012. PMID: 23236289 Free PMC article.

7

Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.

Perkins E, Suminaite D, Jackson M. Perkins E, et al. J Physiol. 2016 Aug 15;594(16):4661-76. doi: 10.1113/JP271195. Epub 2016 Apr 24. J Physiol. 2016. PMID: 26821241 Free PMC article. Review.

8

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.

Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.

9

β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis.

Gao Y, Perkins EM, Clarkson YL, Tobia S, Lyndon AR, Jackson M, Rothstein JD. Gao Y, et al. Among authors: perkins em. J Neurosci. 2011 Nov 16;31(46):16581-90. doi: 10.1523/JNEUROSCI.3332-11.2011. J Neurosci. 2011. PMID: 22090485 Free PMC article.

10

MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias.

Brown AS, Meera P, Altindag B, Chopra R, Perkins EM, Paul S, Scoles DR, Tarapore E, Magri J, Huang H, Jackson M, Shakkottai VG, Otis TS, Pulst SM, Atwood SX, Oro AE. Brown AS, et al. Among authors: perkins em. Proc Natl Acad Sci U S A. 2018 Dec 26;115(52):E12407-E12416. doi: 10.1073/pnas.1816177115. Epub 2018 Dec 7. Proc Natl Acad Sci U S A. 2018. PMID: 30530649 Free PMC article.

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