期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：2010
卷号：107
期号：13
页码：6022-6027
DOI：10.1073/pnas.1001522107
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：The spectrin membrane skeleton controls the disposition of selected membrane channels, receptors, and transporters. In the brain {beta}III spectrin binds directly to the excitatory amino acid transporter (EAAT4), the glutamate receptor delta, and other proteins. Mutations in {beta}III spectrin link strongly to human spinocerebellar ataxia type 5 (SCA5), correlating with alterations in EAAT4. We have explored the mechanistic basis of this phenotype by targeted gene disruption of Spnb3. Mice lacking intact {beta}III spectrin develop normally. By 6 months they display a mild nonprogressive ataxia. By 1 year most Spnb3-/- animals develop a myoclonic seizure disorder with significant reductions of EAAT4, EAAT1, GluR{delta
