Article
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
Proceedings of the National Academy of Sciences of the United States of America - 20 Dec 2005
Roepman Ronald, Letteboer Stef J F, Arts Heleen H, van Beersum Sylvia E C, Lu Xinrong, Krieger Elmar, Ferreira Paulo A, Cremers Frans P M
Abstract excerpt
RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor cells, where it interacts with RPGR (retinitis pigmentosa GTPase regulator). Mutations in RPGRIP1 lead to autosomal recessive congenital blindness [Leber congenital amaurosis (LCA)]. Most LCA-associated missense mutations in RPGRIP1 are located in a segment that encodes two C2 domains. Based on the C2 domain of novel protein...
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