Loss of -III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in Humans
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چکیده
Citation for published version: Perkins, EM, Clarkson, YL, Sabatier, N, Longhurst, DM, Millward, CP, Jack, J, Toraiwa, J, Watanabe, M, Rothstein, JD, Lyndon, AR, Wyllie, DJA, Dutia, MB & Jackson, M 2010, 'Loss of -III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in Humans' The Journal of Neuroscience, vol 30, no. 14, pp. 4857-4867., 10.1523/JNEUROSCI.606509.2010
منابع مشابه
Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
Mutations in SPTBN2, the gene encoding beta-III spectrin, cause spinocerebellar ataxia type 5 in humans (SCA5), a neurodegenerative disorder resulting in loss of motor coordination. How these mutations give rise to progressive ataxia and what the precise role beta-III spectrin plays in normal cerebellar physiology are unknown. We developed a mouse lacking full-length beta-III spectrin and found...
متن کاملNeurobiology of Disease Loss of -III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in Humans
Emma M. Perkins,1 Yvonne L. Clarkson,1 Nancy Sabatier,1 David M. Longhurst,1 Christopher P. Millward,1 Jennifer Jack,1 Junko Toraiwa,1 Mitsunori Watanabe,2 Jeffrey D. Rothstein,3 Alastair R. Lyndon,4 David J. A. Wyllie,1 Mayank B. Dutia,1 and Mandy Jackson1 1The Centre for Integrative Physiology, The University of Edinburgh, George Square, Edinburgh EH8 9XD, United Kingdom, 2Department of Neuro...
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Clinical phenotypes of spinocerebellar ataxia type-5 (SCA5) and spectrin-associated autosomal recessive cerebellar ataxia type-1 (SPARCA1) are mirrored in mice lacking β-III spectrin (β-III-/-). One function of β-III spectrin is the stabilization of the Purkinje cell-specific glutamate transporter EAAT4 at the plasma membrane. In β-III-/- mice EAAT4 levels are reduced from an early age. In cont...
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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 diseases involving progressive gait ataxia and cerebellar atrophy. Both disorders appear to result ...
متن کاملβ-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis.
Mutations in the gene encoding β-III spectrin give rise to spinocerebellar ataxia type 5, a neurodegenerative disease characterized by progressive thinning of the molecular layer, loss of Purkinje cells and increasing motor deficits. A mouse lacking full-length β-III spectrin (β-III⁻/⁻) displays a similar phenotype. In vitro and in vivo analyses of Purkinje cells lacking β-III spectrin, reveal ...
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