Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22

Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22

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 single-nucleotide mutation sites of SCA19/22 have been reported worldwide, and detailed pathogenesis remains unclear. In this...

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Bibliographic Details
Main Authors: Mengjie Li, Fen Liu, Xiaoyan Hao, Yu Fan, Jiadi Li, Zhengwei Hu, Jingjing Shi, Liyuan Fan, Shuo Zhang, Dongrui Ma, Mengnan Guo, Yuming Xu, Changhe Shi
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Molecular Neuroscience
Subjects:
KCND3 mutation
SCA19/22
iPS
neuron
transcriptome (RNA-seq)
endoplasmic reticulum stress
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2022.919199/full

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https://www.frontiersin.org/articles/10.3389/fnmol.2022.919199/full

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