Transient potassium channels: therapeutic targets for brain disorders
Transient potassium current channels (IA channels), which are expressed in most brain
areas, have a central role in modulating feedforward and feedback inhibition along the …
areas, have a central role in modulating feedforward and feedback inhibition along the …
Identification of six new genetic loci associated with atrial fibrillation in the Japanese population
Atrial fibrillation is the most common cardiac arrhythmia and leads to stroke. To investigate
genetic loci associated with atrial fibrillation in the Japanese population, we performed a …
genetic loci associated with atrial fibrillation in the Japanese population, we performed a …
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes
KCND3 encodes the voltage-gated potassium ion channel subfamily D member 3, a six
trans-membrane protein (Kv4. 3), involved in the transient outward K+ current. KCND3 …
trans-membrane protein (Kv4. 3), involved in the transient outward K+ current. KCND3 …
Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia
X Du, JL Carvalho-de-Souza, C Wei… - Proceedings of the …, 2020 - National Acad Sciences
Despite a growing number of ion channel genes implicated in hereditary ataxia, it remains
unclear how ion channel mutations lead to loss-of-function or death of cerebellar neurons …
unclear how ion channel mutations lead to loss-of-function or death of cerebellar neurons …
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
K Smets, A Duarri, T Deconinck, B Ceulemans… - BMC medical …, 2015 - Springer
Background Identification of the first de novo mutation in potassium voltage-gated channel,
shal-related subfamily, member 3 (KCND3) in a patient with complex early onset cerebellar …
shal-related subfamily, member 3 (KCND3) in a patient with complex early onset cerebellar …
Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on …
G Zanni, CT Hsiao, SJ Fu, CY Tang… - International Journal of …, 2021 - mdpi.com
KCND3 encodes the voltage-gated potassium channel KV4. 3 that is highly expressed in the
cerebellum, where it regulates dendritic excitability and calcium influx. Loss-of-function KV4 …
cerebellum, where it regulates dendritic excitability and calcium influx. Loss-of-function KV4 …
Quantitative proteomic analysis of normal and degenerated human intervertebral disc
NS Babu, S Krishnan, CVB Swamy, GPV Subbaiah… - The Spine Journal, 2016 - Elsevier
Abstract Background Context Degenerative disc disease (DDD) is the most common
disease of aging in humans. DDD is characterized by the gradual damage of the …
disease of aging in humans. DDD is characterized by the gradual damage of the …
Novel SCA19/22‐associated KCND3 mutations disrupt human KV4.3 protein biosynthesis and channel gating
CT Hsiao, SJ Fu, YT Liu, YH Lu, CY Zhong… - Human …, 2019 - Wiley Online Library
Mutations in the human voltage‐gated K+ channel subunit KV4. 3‐encoding KCND3 gene
have been associated with the autosomal dominant neurodegenerative disorder …
have been associated with the autosomal dominant neurodegenerative disorder …
Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases
Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominantly inherited
neurodegenerative disorder of the cerebellum caused by mutations in the voltage gated …
neurodegenerative disorder of the cerebellum caused by mutations in the voltage gated …
Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies
Background: Genetic variants in voltage-gated sodium channels (Nav) encoded by SCNXA
genes, responsible for INa, and Kv4. 3 channels encoded by KCND3, responsible for the …
genes, responsible for INa, and Kv4. 3 channels encoded by KCND3, responsible for the …