Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

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 mu...

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書誌詳細
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: National Academy of Sciences 2005
主題:
Biological Sciences
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1317916/
https://ncbi.nlm.nih.gov/pubmed/16339905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0505774102
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