Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes-Reference-Cited by-同舟云学术

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

Published:2006-02-26 Issue:4 Volume:38 Page:447-451
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Waters Michael F,Minassian Natali A,Stevanin Giovanni,Figueroa Karla P,Bannister John P A,Nolte Dagmar,Mock Allan F,Evidente Virgilio Gerald H,Fee Dominic B,Müller Ulrich,Dürr Alexandra,Brice Alexis,Papazian Diane M,Pulst Stefan M

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1758.pdf

Reference30 articles.

1. Graves, T.D. & Hanna, M.G. Neurological channelopathies. Postgrad. Med. J. 81, 20–32 (2005).

2. Herman-Bert, A. et al. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am. J. Hum. Genet. 67, 229–235 (2000).

3. Ghanshani, S. et al. Genomic organization, nucleotide sequence, and cellular distribution of a Shaw-related potassium channel gene, Kv3.3, and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1. Genomics 12, 190–196 (1992).

4. Aggarwal, S.K. & MacKinnon, R. Contribution of the S4 segment to gating charge in the Shaker K+ channel. Neuron 16, 1169–1177 (1996).

5. Pulst, S.M. Inherited ataxias. in Genetics of Movement Disorders (ed. Pulst, S.M.) Ch. 2 (Academic, San Diego, 2003).

Cited by 265 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel KCND3 variant in the N‐terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22;Journal of Cellular and Molecular Medicine;2024-08

2. Distinct, common and synergistic effects of insulin and IGF-1 receptors on healthy murine ageing;Heliyon;2024-08

3. Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms;The Cerebellum;2024-07-24

4. HAX-1 interferes in assembly of NLRP3-ASC to block microglial pyroptosis in cerebral I/R injury;Cell Death Discovery;2024-05-29

5. Regulation of transcription patterns, poly(ADP-ribose), and RNA-DNA hybrids by the ATM protein kinase;Cell Reports;2024-03