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Items: 1 to 20 of 94

1.

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.

2.

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.

Hum Mol Genet. 2010 Sep 15;19(18):3634-41. doi: 10.1093/hmg/ddq279. Epub 2010 Jul 5.

3.

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.

4.

β-III-spectrin spinocerebellar ataxia type 5 mutation reveals a dominant cytoskeletal mechanism that underlies dendritic arborization.

Avery AW, Thomas DD, Hays TS.

Proc Natl Acad Sci U S A. 2017 Oct 31;114(44):E9376-E9385. doi: 10.1073/pnas.1707108114. Epub 2017 Oct 16.

5.

A human β-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding.

Avery AW, Crain J, Thomas DD, Hays TS.

Sci Rep. 2016 Feb 17;6:21375. doi: 10.1038/srep21375.

6.

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
7.

Spectrin mutations in spinocerebellar ataxia (SCA).

Bauer P, Schöls L, Riess O.

Bioessays. 2006 Aug;28(8):785-7. Review.

PMID:
16927298
8.

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.

Hum Mol Genet. 2014 Jul 15;23(14):3875-82. doi: 10.1093/hmg/ddu103. Epub 2014 Mar 6.

9.

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.

PLoS Genet. 2012;8(12):e1003074. doi: 10.1371/journal.pgen.1003074. Epub 2012 Dec 6.

10.

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.

J Neurosci. 2010 Apr 7;30(14):4857-67. doi: 10.1523/JNEUROSCI.6065-09.2010.

11.

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.

Hum Mol Genet. 2016 Oct 15;25(20):4448-4461. doi: 10.1093/hmg/ddw274.

12.

Targeted deletion of betaIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes.

Stankewich MC, Gwynn B, Ardito T, Ji L, Kim J, Robledo RF, Lux SE, Peters LL, Morrow JS.

Proc Natl Acad Sci U S A. 2010 Mar 30;107(13):6022-7. doi: 10.1073/pnas.1001522107. Epub 2010 Mar 15.

13.

Screening of the SPTBN2 (SCA5) gene in German SCA patients.

Zühlke C, Bernard V, Dalski A, Lorenz P, Mitulla B, Gillessen-Kaesbach G, Bürk K.

J Neurol. 2007 Dec;254(12):1649-52. Epub 2007 Oct 25.

PMID:
17940722
14.

Case of infantile onset spinocerebellar ataxia type 5.

Jacob FD, Ho ES, Martinez-Ojeda M, Darras BT, Khwaja OS.

J Child Neurol. 2013 Oct;28(10):1292-5. doi: 10.1177/0883073812454331. Epub 2012 Aug 21.

PMID:
22914369
15.
16.

Spectrin mutations cause spinocerebellar ataxia type 5.

Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP.

Nat Genet. 2006 Feb;38(2):184-90. Epub 2006 Jan 22.

PMID:
16429157
17.

A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.

Wang Y, Koh K, Miwa M, Yamashiro N, Shindo K, Takiyama Y.

J Hum Genet. 2014 Oct;59(10):569-73. doi: 10.1038/jhg.2014.74. Epub 2014 Aug 21.

PMID:
25142508
18.

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A.

Am J Med Genet A. 2017 Sep;173(9):2494-2499. doi: 10.1002/ajmg.a.38332. Epub 2017 Jun 21.

PMID:
28636205
19.

Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivo.

Wishart TM, Rooney TM, Lamont DJ, Wright AK, Morton AJ, Jackson M, Freeman MR, Gillingwater TH.

PLoS Genet. 2012;8(8):e1002936. doi: 10.1371/journal.pgen.1002936. Epub 2012 Aug 30.

20.

Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.

Forman OP, De Risio L, Stewart J, Mellersh CS, Beltran E.

BMC Genet. 2012 Jul 10;13:55. doi: 10.1186/1471-2156-13-55.

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