C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations-Reference-Cited by-同舟云学术

C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations

Published:2024-01-10 Issue:3-4 Volume:69 Page:119-123
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Nakashima Moeko,Shiroshima Tomoko,Fukaya Masahiro,Sugawara Takeyuki,Sakagami Hiroyuki,Yamazawa Kazuki^ORCID

Funder

MEXT | Japan Society for the Promotion of Science

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s10038-023-01210-9.pdf

Reference23 articles.

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2. Sakagami H, Sanda M, Fukaya M, Miyazaki T, Sukegawa J, Yanagisawa T, et al. IQ-ArfGEF/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses. Neurosci Res. 2008;60:199–212.

3. Sanda M, Kamata A, Katsumata O, Fukunaga K, Watanabe M, Kondo H, et al. The postsynaptic density protein, IQ-ArfGEF/BRAG1, can interact with IRSp53 through its proline-rich sequence. Brain Res. 2009;1251:7–15.

4. Brown JC, Petersen A, Zhong L, Himelright ML, Murphy JA, Walikonis RS, et al. Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression. Nat Commun. 2016;7:11080.

5. Hinze SJ, Jackson MR, Lie S, Jolly L, Field M, Barry SC, et al. Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis. Transl Psychiatry. 2017;7:e1110.

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