Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome-Reference-Cited by-同舟云学术

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Published:2007-06-10 Issue:7 Volume:39 Page:882-888
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Arts Heleen H,Doherty Dan,van Beersum Sylvia E C,Parisi Melissa A,Letteboer Stef J F,Gorden Nicholas T,Peters Theo A,Märker Tina,Voesenek Krysta,Kartono Aileen,Ozyurek Hamit,Farin Federico M,Kroes Hester Y,Wolfrum Uwe,Brunner Han G,Cremers Frans P M,Glass Ian A,Knoers Nine V A M,Roepman Ronald

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng2069.pdf

Reference30 articles.

1. Mollet, G. et al. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat. Genet. 32, 300–305 (2002).

2. Otto, E.A. et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat. Genet. 37, 282–288 (2005).

3. Roepman, R. et al. Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proc. Natl. Acad. Sci. USA 102, 18520–18525 (2005).

4. Sayer, J.A. et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet. 38, 674–681 (2006).

5. Parisi, M.A. et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am. J. Hum. Genet. 75, 82–91 (2004).

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