Article
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.
PloS one - 1 Jan 2014
Manes Gaël, Cheguru Pallavi, Majumder Anurima, Bocquet Béatrice, Sénéchal Audrey, Artemyev Nikolai O, Hamel Christian P, Brabet Philippe
Abstract excerpt
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 phototransduction cascade is a prerequisite to cause adCSNB. The unique adCSNB-associated PDE6B mutation found in the...
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