ArticleCellular and molecular life sciences : CMLS2015
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
Article in Cellular and molecular life sciences : CMLS, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- Restoration of Shal/KCellular and molecular life sciences : CMLS · 2025Article
- Functional characterization of two KCND3 variants associated with SCA 19/22 ataxia in Latin American families.Biological research · 2025Article
- A dominant negative Kcnd3 F227del mutation in mice causes spinocerebellar ataxia type 22 (SCA22) by impairing ER and Golgi functioning.The Journal of pathology · 2025Article
- A novel KCND3 variant in the N-terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22.Journal of cellular and molecular medicine · 2024Article
- An E280K Missense Variant inInternational journal of molecular sciences · 2023Article
- Activation and closed-state inactivation mechanisms of the human voltage-gated KMolecular cell · 2022Article
- Rare Gain-of-FunctionInternational journal of molecular sciences · 2021Article
- V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.Neurology. Genetics · 2021Article
- Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs.PLoS genetics · 2020Article
- Transient Potassium Channels: Therapeutic Targets for Brain Disorders.Frontiers in cellular neuroscience · 2019Review
- Ion channel dysfunction in cerebellar ataxia.Neuroscience letters · 2019Review
- Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.Cerebellum (London, England) · 2018Article
- Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.Cerebellum (London, England) · 2018Article
- Dendritic potassium channel dysfunction may contribute to dendrite degeneration in spinocerebellar ataxia type 1.PloS one · 2018Article
- Purkinje Cell Signaling Deficits in Animal Models of Ataxia.Frontiers in synaptic neuroscience · 2018Review
- A novelOncotarget · 2017Article
- Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.Nature genetics · 2017Article
- Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Neuroscience and biobehavioral reviews · 2017Review
- First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.BMC medical genetics · 2015Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
The dominantly inherited cerebellar ataxias are a heterogeneous group of neurodegenerative disorders caused by Purkinje cell loss in the cerebellum. Recently, we identified loss-of-function mutations in the KCND3 gene as the cause of spinocerebellar ataxia type 19/22 (SCA19/22), revealing a previously unknown role for the voltage-gated potassium channel, Kv4.3, in Purkinje cell survival. However, how mutant Kv4.3 affects wild-type Kv4.3 channel functioning remains unknown. We provide evidence that SCA19/22-mutant Kv4.3 exerts a dominant negative effect on the trafficking and surface expression of wild-type Kv4.3 in the absence of its regulatory subunit, KChIP2. Notably, this dominant negative effect can be rescued by the presence of KChIP2. We also found that all SCA19/22-mutant subunits either suppress wild-type Kv4.3 current amplitude or alter channel gating in a dominant manner. Our findings suggest that altered Kv4.3 channel localization and/or functioning resulting from SCA19/22 mutations may lead to Purkinje cell loss, neurodegeneration and ataxia.
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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.