Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita

Autor: Chung-Jiuan Jeng, Ssu-Ju Fu, Chia-Ying You, Yi-Jheng Peng, Cheng-Tsung Hsiao, Tsung-Yu Chen, Chih-Yung Tang

Publikováno v: Frontiers in Neurology, Vol 11 (2020)

The voltage-dependent ClC-1 chloride channel, whose open probability increases with membrane potential depolarization, belongs to the superfamily of CLC channels/transporters. ClC-1 is almost exclusively expressed in skeletal muscles and is essential

Externí odkaz: https://doaj.org/article/ff9b0382f8cd4703acbf7270b4cd1390

The Eag domain regulates the voltage-dependent inactivation of rat Eag1 K+ channels.

Autor: Ting-Feng Lin, Guey-Mei Jow, Hsin-Yu Fang, Ssu-Ju Fu, Hao-Han Wu, Mei-Miao Chiu, Chung-Jiuan Jeng

Publikováno v: PLoS ONE, Vol 9, Iss 10, p e110423 (2014)

Eag (Kv10) and Erg (Kv11) belong to two distinct subfamilies of the ether-à-go-go K+ channel family (KCNH). While Erg channels are characterized by an inward-rectifying current-voltage relationship that results from a C-type inactivation, mammalian

Externí odkaz: https://doaj.org/article/037ccebd39d8414480c1c3f2ef9c9351

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

Autor: Ssu Ju Fu, Chung Jiuan Jeng, Cheng Tsung Hsiao, Chih Yung Tang, Thomas F. Tropea, Tanya Bardakjian, Bing Wen Soong, Pedro Gonzalez-Alegre

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 8247, p 8247 (2021)
Volume 22
Issue 15

Loss-of-function mutations in the KV4.3 channel-encoding KCND3 gene are linked to neurodegenerative cerebellar ataxia. Patients suffering from neurodegeneration associated with iron deposition may also present with cerebellar ataxia. The mechanism un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bcfeb920e03ebb3e572284c99154f27
http://europepmc.org/articles/PMC8347726

Regulation of ClC-2 Chloride Channel Proteostasis by Molecular Chaperones: Correction of Leukodystrophy-Associated Defect

Autor: Meng Chun Hu, Chung Jiuan Jeng, Tsung-Yu Chen, Ssu Ju Fu, An Ting Cheng, Cheng Tsung Hsiao, Chih Yung Tang

Publikováno v: International Journal of Molecular Sciences; Volume 22; Issue 11; Pages: 5859
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 5859, p 5859 (2021)

The ClC-2 channel plays a critical role in maintaining ion homeostasis in the brain and the testis. Loss-of-function mutations in the ClC-2-encoding human CLCN2 gene are linked to the white matter disease leukodystrophy. Clcn2-deficient mice display

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97eaa45dedb72e931a02ec77bb407189

Novel

Autor: Ginevra, Zanni, Cheng-Tsung, Hsiao, Ssu-Ju, Fu, Chih-Yung, Tang, Alessandro, Capuano, Luca, Bosco, Federica, Graziola, Emanuele, Bellacchio, Serenella, Servidei, Guido, Primiano, Bing-Wen, Soong, Chung-Jiuan, Jeng

Publikováno v: International Journal of Molecular Sciences

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 KV4.3 mutations have been associated with dominant spinocerebellar atax

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dbcf71e4021e1e18c995598959582f9d
https://pubmed.ncbi.nlm.nih.gov/34067185