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English Journal

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 YL1, Perkins EM1, Cairncross CJ2, Lyndon AR3, Skehel PA1, Jackson M4.
Human molecular genetics.Hum Mol Genet.2014 Jul 15;23(14):3875-82. doi: 10.1093/hmg/ddu103. Epub 2014 Mar 6.
Beta III spectrin is present throughout the elaborate dendritic tree of cerebellar Purkinje cells and is required for normal neuronal morphology and cell survival. Spinocerebellar ataxia type 5 (SCA5) and spectrin associated autosomal recessive cerebellar ataxia type 1 are human neurodegenerative di
PMID 24603075

Spectrins: a structural platform for stabilization and activation of membrane channels, receptors and transporters.

Machnicka B1, Czogalla A2, Hryniewicz-Jankowska A2, Bogusławska DM1, Grochowalska R1, Heger E1, Sikorski AF3.
Biochimica et biophysica acta.Biochim Biophys Acta.2014 Feb;1838(2):620-34. doi: 10.1016/j.bbamem.2013.05.002. Epub 2013 May 11.
This review focuses on structure and functions of spectrin as a major component of the membrane skeleton. Recent advances on spectrin function as an interface for signal transduction mediation and a number of data concerning interaction of spectrin with membrane channels, adhesion molecules, recepto
PMID 23673272

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

Elsayed SM1, Heller R2, Thoenes M2, Zaki MS3, Swan D4, Elsobky E1, Zühlke C5, Ebermann I2, Nürnberg G6, Nürnberg P6, Bolz HJ7.
European journal of human genetics : EJHG.Eur J Hum Genet.2014 Feb;22(2):286-8. doi: 10.1038/ejhg.2013.150. Epub 2013 Jul 10.
Although many genes have been identified for the autosomal recessive cerebellar ataxias (ARCAs), several patients are unlinked to the respective loci, suggesting further genetic heterogeneity. We combined homozygosity mapping and exome sequencing in a consanguineous Egyptian family with congenital A
PMID 23838597

北村栄子
東京女子医科大学雑誌 68(5), 263-272, 1998-05-25
… Based on the Notl restriction map, we have constructed a 3 Mb contig map on 11g13.1-g13.3 which encompasses all the candidate loci of Bardet-Biedle syndrome type I (BBS 1) and spinocer-ebellar ataxia type 5 (SCA 5). …
NAID 110007527475