A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration

Semaphorin 4A (Sema4A) has an essential role in photoreceptor survival. In humans, mutations in Sema4A are thought to contribute to retinal degenerative diseases. Here we generate a series of knock-in mouse lines with corresponding mutations (D345H, F350C or R713Q) in the Sema4A gene and find that S...

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主要な著者: Nojima, Satoshi, Toyofuku, Toshihiko, Kamao, Hiroyuki, Ishigami, Chie, Kaneko, Jun, Okuno, Tatsusada, Takamatsu, Hyota, Ito, Daisuke, Kang, Sujin, Kimura, Tetsuya, Yoshida, Yuji, Morimoto, Keiko, Maeda, Yohei, Ogata, Atsushi, Ikawa, Masahito, Morii, Eiichi, Aozasa, Katsuyuki, Takagi, Junichi, Takahashi, Masayo, Kumanogoh, Atsushi
フォーマット: Artigo
言語:Inglês
出版事項: Nature Pub. Group 2013
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Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3562463/
https://ncbi.nlm.nih.gov/pubmed/23360997
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms2420
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