CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Autor: Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attixe9-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG.

Publikováno v: Nat Genet.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=erc_________::0f360de62f0cda382a5139a8d20976d8

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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

Autor: Louie CM; Howard Hughes Medical Institute, Department of Pediatrics, University of California, San Diego, La Jolla, USA., Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG

Publikováno v: Nature genetics [Nat Genet] 2010 Feb; Vol. 42 (2), pp. 175-80. Date of Electronic Publication: 2010 Jan 17.