A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit

Autosomal dominant congenital stationary night blindness (adCSNB) is caused by mutations in three genes of the rod phototransduction cascade, rhodopsin (RHO), transducin α-subunit (GNAT1), and cGMP phosphodiesterase type 6 β-subunit (PDE6B). In most cases, the constitutive activation of the phototra...

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Autores principales: Manes, Gaël, Cheguru, Pallavi, Majumder, Anurima, Bocquet, Béatrice, Sénéchal, Audrey, Artemyev, Nikolai O., Hamel, Christian P., Brabet, Philippe
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2014
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3997432/
https://ncbi.nlm.nih.gov/pubmed/24760071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0095768
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