| 1 | SCA5, SCAR14, SPTBN2
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| Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
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| Nicita F, Nardella M, Bellacchio E, Alfieri P, Terrone G, Piccini G, Graziola F, Pignata C, Capuano A, Bertini E, Zanni G.
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| Clin Genet lin Genet. 2019 May 8. doi: 10.1111/cge.13562. [Epub ahead of print]
2019
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| 2 | SCA5, SCAR14
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| Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.
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| Nuovo S, Micalizzi A, D'Arrigo S, Ginevrino M, Biagini T, Mazza T, Valente EM.
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| Eur J Hum Genet 26(7):928-929. doi: 10.1038/s41431-018-0158-7. Epub 2018 May 25. No abstract available.
2018
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| 3 | SCA5, SPTBN2
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| Structural basis for high-affinity actin binding revealed by a β-III-spectrin SCA5 missense mutation.
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| Avery AW, Fealey ME, Wang F, Orlova A, Thompson AR, Thomas DD, Hays TS, Egelman EH.
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| Nat Commun 8(1):1350. doi: 10.1038/s41467-017-01367-w.
2017
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| 4 | SCA5, SPTBN2
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| Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
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| 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.
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| J Neurosci 30(14):4857-67.PMID: 20371805 2010
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| 5 | SCA5, SPTBN2
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| Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.
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| Clarkson YL, Gillespie T, Perkins EM, Lyndon AR, Jackson M.
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| Hum Mol Genet 19(18):3634-41. Epub 2010 Jul 5.PMID: 20603325 2010
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| 6 | SCA5, SPTBN2
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| Screening of the SPTBN2 (SCA5) gene in German SCA patients.
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| Zühlke C, Bernard V, Dalski A, Lorenz P, Mitulla B, Gillessen-Kaesbach G, Bürk K.
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| J Neurol 254(12):1649-52. Epub 2007 Oct 25.PMID: 17940722 2007
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| 7 | SPTBN2, SCA5
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| Spectrin mutations cause spinocerebellar ataxia type 5.
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| Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Durr A, Zuhlke C, Burk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP.
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| Nat Genet 38(2):184-90. Epub 2006 Jan 22. 2006
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| 8 | BRMS1, FRA11A, GAL3ST3, SCA5
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| A 700-kb physical and transcription map of the cervical cancer tumor suppressor gene locus on chromosome 11q13.
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| Zainabadi K, Benyamini P, Chakrabarti R, Veena MS, Chandrasekharappa SC, Gatti RA, Srivatsan ES.
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| Genomics 85(6):704-14. Epub 2005 Apr 9. 2005
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| 9 | SCA5
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| Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.
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| Burk K, Zuhlke C, Konig IR, Ziegler A, Schwinger E, Globas C, Dichgans J, Hellenbroich Y.
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| Neurology 62(2):327-9. Review. 2004
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| 10 | BBS1, SCA5
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| A transcript map of an 800-kb region on human chromosome 11q13, part of the candidate region for SCA5 and BBS1.
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| Zhu S, Gerhard DS.
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| Hum Genet 103 : 674-680. 1998
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| 11 | BBS1, MS4A1, MEN1, SCA5
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| A 3-Mb sequence-ready contig map encompassing the multiple disease gene cluster on chromosome 11q13.1-q13.3.
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| Kitamura E, Hosoda F, Fukushima M, Asakawa S, Shimizu N, Imai T, Soeda E, Ohki M.
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| DNA Res 4(4):281-9. 1997
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| 12 | SCA5
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| Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.
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| Ranum LPW, et al.
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| Nat Genet 8 : 280-284. 1994
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