Potential benefit of channel activators in loss-of-function primary potassium channelopathies causing heredoataxia

J Gazulla, J Berciano - The Cerebellum, 2024 - Springer
Potassium channels (KCN) are transmembrane complexes that regulate the resting
membrane potential and the duration of action potentials in cells. The opening of KCN …

Pediatric-onset epilepsy and developmental epileptic encephalopathies followed by early-onset parkinsonism

C Spagnoli, C Fusco, F Pisani - International Journal of Molecular …, 2023 - mdpi.com
Genetic early-onset Parkinsonism is unique due to frequent co-occurrence of hyperkinetic
movement disorder (s)(MD), or additional neurological of systemic findings, including …

NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome

K Brennan, H Zheng, JA Fahrner, JH Shin… - Human molecular …, 2022 - academic.oup.com
Sotos syndrome (SS), the most common overgrowth with intellectual disability (OGID)
disorder, is caused by inactivating germline mutations of NSD1, which encodes a histone H3 …

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 …

[HTML][HTML] Genomic insights into local adaptation and phenotypic diversity of Wenchang chickens

LH Gu, RR Wu, XL Zheng, A Fu, ZY Xing, YY Chen… - Poultry Science, 2024 - Elsevier
Wenchang chicken, a prized local breed in Hainan Province of China renowned for its
exceptional adaptability to tropical environments and good meat quality, is deeply favored …

Genetic Determinants of Atherogenic Indexes

T Texis, S Rivera-Mancía, E Colín-Ramírez… - Genes, 2023 - mdpi.com
Atherogenesis and dyslipidemia increase the risk of cardiovascular disease, which is the
leading cause of death in developed countries. While blood lipid levels have been studied …

Rare KCND3 Loss-of-Function mutation associated with the SCA19/22

M Li, F Liu, X Hao, Y Fan, J Li, Z Hu, J Shi… - Frontiers in molecular …, 2022 - frontiersin.org
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare neurodegenerative disorder caused by
mutations of the KCND3 gene, which encodes the Kv4. 3 protein. Currently, only 22 KCND3 …

Translocation of TMEM175 lysosomal potassium channel to the plasma membrane by dynasore compounds

E Pergel, I Veres, GI Csigi, G Czirják - International Journal of Molecular …, 2021 - mdpi.com
TMEM175 (transmembrane protein 175) coding sequence variants are associated with
increased risk of Parkinson's disease. TMEM175 is the ubiquitous lysosomal K+ channel …

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation

CT Hsiao, TF Tropea, SJ Fu, TM Bardakjian… - International Journal of …, 2021 - mdpi.com
Loss-of-function mutations in the KV4. 3 channel-encoding KCND3 gene are linked to
neurodegenerative cerebellar ataxia. Patients suffering from neurodegeneration associated …

A novel KCND3 variant in the N‐terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22

MC Reis, L Mandler, JS Kang, D Oliver… - Journal of Cellular …, 2024 - Wiley Online Library
Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominant movement disorders. Among the SCAs associated with impaired ion channel …