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Article

Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.

Cellular and molecular life sciences : CMLS - 1 Sept 2015

Duarri Anna, Lin Meng-Chin A, Fokkens Michiel R, Meijer Michel, Smeets Cleo J L M, Nibbeling Esther A R, Boddeke Erik, Sinke Richard J, Kampinga Harm H, Papazian Diane M, Verbeek Dineke S

Abstract excerpt

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...

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Identifiers

PMID: 25854634
DOI: 10.1007/s00018-015-1894-2
PMCID: PMC4531139

Genes

KCND3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.PMID 25854634Read ↗

Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.Semantic proximity Read ↗

Mutations in KCND3 cause spinocerebellar ataxia type 22.Semantic proximity Read ↗

Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.Semantic proximity Read ↗

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.Semantic proximity Read ↗

A novel KCND3 variant in the N-terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22.Semantic proximity Read ↗

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.Semantic proximity Read ↗

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsySemantic proximity Read ↗

The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.Semantic proximity Read ↗

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