Perkins E - Search Results

1

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.

2

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.

3

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. Among authors: perkins e. PLoS Genet. 2012;8(12):e1003074. doi: 10.1371/journal.pgen.1003074. Epub 2012 Dec 6. PLoS Genet. 2012. PMID: 23236289 Free PMC article.

4

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.

5

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. 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.

6

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. 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.

7

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.

8

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.

9

De novo point mutations in patients diagnosed with ataxic cerebral palsy.

Parolin Schnekenberg R, Perkins EM, Miller JW, Davies WI, D'Adamo MC, Pessia M, Fawcett KA, Sims D, Gillard E, Hudspith K, Skehel P, Williams J, O'Regan M, Jayawant S, Jefferson R, Hughes S, Lustenberger A, Ragoussis J, Jackson M, Tucker SJ, Németh AH. Parolin Schnekenberg R, et al. Among authors: perkins em. Brain. 2015 Jul;138(Pt 7):1817-32. doi: 10.1093/brain/awv117. Epub 2015 May 16. Brain. 2015. PMID: 25981959 Free PMC article.

10

Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction.

Perkins EM, Burr K, Banerjee P, Mehta AR, Dando O, Selvaraj BT, Suminaite D, Nanda J, Henstridge CM, Gillingwater TH, Hardingham GE, Wyllie DJA, Chandran S, Livesey MR. Perkins EM, et al. Mol Neurodegener. 2021 Mar 4;16(1):13. doi: 10.1186/s13024-021-00433-8. Mol Neurodegener. 2021. PMID: 33663561 Free PMC article.

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