2016
DOI: 10.1113/jp271195
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Cerebellar ataxias: β‐III spectrin's interactions suggest common pathogenic pathways

Abstract: Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of disorders all characterised by postural abnormalities, motor deficits and cerebellar degeneration. Animal and in vitro models have revealed β‐III spectrin, a cytoskeletal protein present throughout the soma and dendritic tree of cerebellar Purkinje cells, to be required for the maintenance of dendritic architecture and for the trafficking and/or stabilisation of several membrane proteins: ankyrin‐R, cell adhesion molecules, metabotropic gl… Show more

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Cited by 26 publications
(23 citation statements)
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References 119 publications
(237 reference statements)
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“…Also, βIII spectrin is reportedly present throughout the dendritic tree of cerebellar Purkinje cells, and is essential for the recruitment and maintenance of ankyrin-R at the plasma membrane. The loss of function of βIII spectrin results in thinner dendrites and excessive dendritic protrusions with loss of planarity, and leads to spinocerebellar ataxia type 5 (35,36). Taken together, the perturbation in ankyrin and β spectrin interactions in distinct neuronal domains underpins the pathogenesis of loss of function of αII spectrin, their universal binding partner (Figure 8).…”
Section: Discussionmentioning
confidence: 99%
“…Also, βIII spectrin is reportedly present throughout the dendritic tree of cerebellar Purkinje cells, and is essential for the recruitment and maintenance of ankyrin-R at the plasma membrane. The loss of function of βIII spectrin results in thinner dendrites and excessive dendritic protrusions with loss of planarity, and leads to spinocerebellar ataxia type 5 (35,36). Taken together, the perturbation in ankyrin and β spectrin interactions in distinct neuronal domains underpins the pathogenesis of loss of function of αII spectrin, their universal binding partner (Figure 8).…”
Section: Discussionmentioning
confidence: 99%
“…As it has been recently reported, the periodic, ruler-like membrane skeleton based on spectrin and actin serves as a nanoscale scaffold to mediate physical interactions between cell types of the neural stem cell lineage. 31 The cell-specific repertoire of spectrin subunits encoding gene defects underlies a new group of disorders, the neuronal spectrinopathies, which includes spectrin-associated autosomal recessive cerebellar ataxia type 1, 32,33 spinocerebellar ataxia type 5, 34,35 early infantile epileptic encephalopathy type 5, 36,37 West syndrome, 38 and serious cardiac disorders such as congenital arrhythmias, heart failure, and possibly sudden cardiac death. 39 In Drosophila, loss of b-spectrin has been reported to lead to the loss of Na þ /K þ -ATPase from the basolateral domain of epithelial cells.…”
Section: Impact Statementmentioning
confidence: 99%
“…Spinocerebellar ataxias (SCAs) are a clinically heterogeneous group of autosomal dominant neurodegenerative disorders that cause cerebellar ataxia by disrupting the afferent and efferent pathways of the cerebellum 1) . The typical age of onset is between the 30s and 40s, and presentation can be with different clinical symptoms.…”
Section: Introductionmentioning
confidence: 99%