Focus on Molecules: RPGRIP1

Experimental Eye Research

Volumn 88, Issue 3, 2009, Pages 332-333

  Arts, Heleen H ^a   Cremers, Frans P M ^a   Knoers, Nine V A M ^a   Roepman, Ronald ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

basal body; ciliopathies; LCA; nephrocystin 4; RPGRIP1

Indexed keywords

PROTEIN KINASE C;

ELECTRORETINOGRAM; GENE; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; GENETIC CODE; HUMAN; JOUBERT SYNDROME; LEBER CONGENITAL AMAUROSIS; MECKEL SYNDROME; MOLECULAR WEIGHT; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTORECEPTOR CELL; PRIORITY JOURNAL; RETINITIS PIGMETOSA GTPASE REGULATOR INTERACTING PROTEIN 1 GENE; SHORT SURVEY;

ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; MICE; MICE, KNOCKOUT; MUTATION, MISSENSE; OPTIC ATROPHY, HEREDITARY, LEBER; PROTEINS;

EID: 61549103720     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exer.2008.03.019     Document Type: Short Survey

References (4)

1. Arts H.H., Doherty D., van Beersum S.E., Parisi M.A., Letteboer S.J., Gorden N.T., Peters T.A., Marker T., Voesenek K., Kartono A., Ozyurek H., Farin F.M., Kroes H.Y., Wolfrum U., Brunner H.G., Cremers F.P., Glass I.A., Knoers N.V., and Roepman R. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat. Genet. 39 (2007) 882-888
2. Dryja T.P., Adams S.M., Grimsby J.L., McGee T.L., Hong D.H., Li T., Andreasson S., and Berson E.L. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am. J. Hum. Genet. 68 (2001) 1295-1298
3. Ferreira P.A. Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms. Hum. Mol. Genet. 14 Spec No. 2 (2005) R259-R267
4. Pawlyk B.S., Smith A.J., Buch P.K., Adamian M., Hong D.H., Sandberg M.A., Ali R.R., and Li T. Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. Invest. Ophthalmol. Vis. Sci. 46 (2005) 3039-3045