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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Pub. Group 2013
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Article
Acesso em linha: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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