ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2000
The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 134 citations in OpenAlex.
- Article
- An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development.Current neuropharmacology · 2018Review
- Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient-Induced Pluripotent Stem Cells.Stem cells and development · 2017Article
- Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.Frontiers in cellular neuroscience · 2015Review
- The role for alterations in neuronal activity in the pathogenesis of polyglutamine repeat disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2014Review
- Cytoplasmic location of α1A voltage-gated calcium channel C-terminal fragment (Cav2.1-CTF) aggregate is sufficient to cause cell death.PloS one · 2013Article
- Cell biology of spinocerebellar ataxia.The Journal of cell biology · 2012Review
- Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.Nature reviews. Neurology · 2012Review
- Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6.Neurobiology of disease · 2011Article
- Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexes.BMC genomics · 2010Article
- CaV2.1 channelopathies.Pflugers Archiv : European journal of physiology · 2010Review
- The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.Acta neuropathologica · 2010Article
- Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias.F1000 biology reports · 2010Article
- Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2009Article
- Localization and targeting of voltage-dependent ion channels in mammalian central neurons.Physiological reviews · 2008Review
- Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels.Proceedings of the National Academy of Sciences of the United States of America · 2008Article
- [Human calcium channelopathies. Voltage-gated Ca(2+) channels in etiology, pathogenesis, and pharmacotherapy of neurologic disorders].Der Nervenarzt · 2008Review
- Molecular pathogenesis of spinocerebellar ataxia type 6.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2007Review
- Dominant-negative suppression of Cav2.1 currents by alpha(1)2.1 truncations requires the conserved interaction domain for beta subunits.Molecular and cellular neurosciences · 2007Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Spinocerebellar ataxia type 6 (SCA6) is a dominantly inherited degenerative disorder of the cerebellum characterized by nearly selective and progressive death of Purkinje cells. The underlying mutation in SCA6 consists of an expansion of a trinucleotide CAG repeat in the 3' region of the gene, CACNA1A, encoding the alpha(1A) subunit of the neuronal P/Q-type voltage-gated calcium channel. Although it is known that this mutation results in an expanded tract of glutamine residues in some alpha(1A) splice forms, the distribution of these splice forms and the role of this mutation in the highly selective Purkinje cell degeneration seen in SCA6 have yet to be elucidated. Using specific antisera we demonstrate that the pathological expansion in SCA6 can potentially be expressed in multiple isoforms of the alpha(1A) subunit, and that these isoforms are abundantly expressed in the cerebellum, particularly in the Purkinje cell bodies and dendrites. Using alpha(1A) subunit chimeras expressing SCA6 mutations, we show that the SCA6 polyglutamine expansion shifts the voltage dependence of channel activation and rate of inactivation only when expressed with beta(4) subunits and impairs normal G-protein regulation of P/Q channels. These findings suggest the possibility that SCA6 is a channelopathy, and that the underlying mutation in SCA6 causes Purkinje cell degeneration through excessive entry of calcium ions.
Indexed as
Identifiers
10964945PMC6772973W2155034574What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.