This is the current revision of this page, as edited by Maxim Masiutin(talk | contribs) at 12:51, 24 January 2024(Altered title. Add: isbn, chapter. Put the {{Short description}} template first as prescribed by MOS:ORDER.). The present address (URL) is a permanent link to this version.
Revision as of 12:51, 24 January 2024 by Maxim Masiutin(talk | contribs)(Altered title. Add: isbn, chapter. Put the {{Short description}} template first as prescribed by MOS:ORDER.)
Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA.[8]
Sohocki MM, Malone KA, Sullivan LS, Daiger SP (1999). "Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders". Genomics. 58 (1): 29–33. doi:10.1006/geno.1999.5810. PMID10331942.
Damji KF, Sohocki MM, Khan R, Gupta SK, Rahim M, Loyer M, Hussein N, Karim N, Ladak SS, Jamal A, Bulman D, Koenekoop RK (2001). "Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p". Can. J. Ophthalmol. 36 (5): 252–9. doi:10.1016/s0008-4182(01)80018-1. PMID11548141.
Kanaya K, Sohocki MM, Kamitani T (2004). "Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis". Biochem. Biophys. Res. Commun. 317 (3): 768–73. doi:10.1016/j.bbrc.2004.03.108. PMID15081406.
Akey DT, Zhu X, Dyer M, Li A, Sorensen A, Fukada-Kamitani T, Daiger SP, Craft C, Kamitani T, Sohocki MM (2003). "Functional Studies of AIPL1: Potential role of AIPL1 in cell cycle exit and/Or differentiation of photoreceptors". Retinal Degenerations. Adv. Exp. Med. Biol. Vol. 533. pp. 287–95. doi:10.1007/978-1-4615-0067-4_35. ISBN978-1-4613-4909-9. PMID15180275.