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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Pub. Group 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3562463/
https://www.ncbi.nlm.nih.gov/pubmed/23360997
http://dx.doi.org/10.1038/ncomms2420

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3562463/
https://www.ncbi.nlm.nih.gov/pubmed/23360997
http://dx.doi.org/10.1038/ncomms2420

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