PubMed

An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.

Heegaard S, Rosenberg T, Preising M, Prause JU, Bek T.

Br J Ophthalmol. 2003 Aug;87(8):980-3.PMID: 12881340 [PubMed - indexed for MEDLINE]Related articlesFree article

Predominant rod photoreceptor degeneration in Leber congenital amaurosis.

van der Spuy J, Munro PM, Luthert PJ, Preising MN, Bek T, Heegaard S, Cheetham ME.

Mol Vis. 2005 Jul 22;11:542-53.PMID: 16052170 [PubMed - indexed for MEDLINE]Related articlesFree article

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.

Damji KF, Sohocki MM, Khan R, Gupta SK, Rahim M, Loyer M, Hussein N, Karim N, Ladak SS, Jamal A, Bulman D, Koenekoop RK.

Can J Ophthalmol. 2001 Aug;36(5):252-9.PMID: 11548141 [PubMed - indexed for MEDLINE]Related articles

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

Porto FB, Perrault I, Hicks D, Rozet JM, Hanoteau N, Hanein S, Kaplan J, Sahel JA.

J Gene Med. 2002 Jul-Aug;4(4):390-6.PMID: 12124981 [PubMed - indexed for MEDLINE]Related articles

Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis.

Dyer MA, Donovan SL, Zhang J, Gray J, Ortiz A, Tenney R, Kong J, Allikmets R, Sohocki MM.

Brain Res Mol Brain Res. 2004 Dec 20;132(2):208-20.PMID: 15582159 [PubMed - indexed for MEDLINE]Related articles

AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins.

Ramamurthy V, Roberts M, van den Akker F, Niemi G, Reh TA, Hurley JB.

Proc Natl Acad Sci U S A. 2003 Oct 28;100(22):12630-5. Epub 2003 Oct 10.PMID: 14555765 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.

Milam AH, Barakat MR, Gupta N, Rose L, Aleman TS, Pianta MJ, Cideciyan AV, Sheffield VC, Stone EM, Jacobson SG.

Ophthalmology. 2003 Mar;110(3):549-58.PMID: 12623820 [PubMed - indexed for MEDLINE]Related articles

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.

Akey DT, Zhu X, Dyer M, Li A, Sorensen A, Blackshaw S, Fukuda-Kamitani T, Daiger SP, Craft CM, Kamitani T, Sohocki MM.

Hum Mol Genet. 2002 Oct 15;11(22):2723-33. Erratum in: Hum Mol Genet. 2003 Feb 15;12(4):451. PMID: 12374762 [PubMed - indexed for MEDLINE]Related articlesFree article

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.

van der Spuy J, Chapple JP, Clark BJ, Luthert PJ, Sethi CS, Cheetham ME.

Hum Mol Genet. 2002 Apr 1;11(7):823-31.PMID: 11929855 [PubMed - indexed for MEDLINE]Related articlesFree article

Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase.

Ramamurthy V, Niemi GA, Reh TA, Hurley JB.

Proc Natl Acad Sci U S A. 2004 Sep 21;101(38):13897-902. Epub 2004 Sep 13.PMID: 15365178 [PubMed - indexed for MEDLINE]Related articlesFree article

Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis.

Pignatelli V, Cepko CL, Strettoi E.

J Comp Neurol. 2004 Feb 9;469(3):351-9.PMID: 14730587 [PubMed - indexed for MEDLINE]Related articles

Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.

Aguirre GK, Komáromy AM, Cideciyan AV, Brainard DH, Aleman TS, Roman AJ, Avants BB, Gee JC, Korczykowski M, Hauswirth WW, Acland GM, Aguirre GD, Jacobson SG.

PLoS Med. 2007 Jun;4(6):e230.PMID: 17594175 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of three genes in Leber congenital amaurosis in Indonesian patients.

Sitorus RS, Lorenz B, Preising MN.

Vision Res. 2003 Dec;43(28):3087-93.PMID: 14611946 [PubMed - indexed for MEDLINE]Related articles

Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis.

Pang JJ, Chang B, Kumar A, Nusinowitz S, Noorwez SM, Li J, Rani A, Foster TC, Chiodo VA, Doyle T, Li H, Malhotra R, Teusner JT, McDowell JH, Min SH, Li Q, Kaushal S, Hauswirth WW.

Mol Ther. 2006 Mar;13(3):565-72. Epub 2005 Oct 11.PMID: 16223604 [PubMed - indexed for MEDLINE]Related articles

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.

Simovich MJ, Miller B, Ezzeldin H, Kirkland BT, McLeod G, Fulmer C, Nathans J, Jacobson SG, Pittler SJ.

Hum Mutat. 2001 Aug;18(2):164.PMID: 11462243 [PubMed - indexed for MEDLINE]Related articles

Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).

Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, Li J, Noorwez SM, Malhotra R, McDowell JH, Kaushal S, Hauswirth WW, Nusinowitz S, Thompson DA, Heckenlively JR.

Mol Vis. 2005 Feb 28;11:152-62.PMID: 15765048 [PubMed - indexed for MEDLINE]Related articlesFree article

[From gene to disease; Leber congenital amaurosis (LCA)]

Yzer S, van den Born LI, Cremers FP, den Hollander AI.

Ned Tijdschr Geneeskd. 2005 Oct 15;149(42):2334-7. Review. Dutch. PMID: 16261712 [PubMed - indexed for MEDLINE]Related articles

Clinical phenotypes in carriers of Leber congenital amaurosis mutations.

Galvin JA, Fishman GA, Stone EM, Koenekoop RK.

Ophthalmology. 2005 Feb;112(2):349-56.PMID: 15691574 [PubMed - indexed for MEDLINE]Related articles

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH.

Arch Ophthalmol. 2004 Jul;122(7):1029-37.PMID: 15249368 [PubMed - indexed for MEDLINE]Related articlesFree article

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP.

Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1167-76.PMID: 16505055 [PubMed - indexed for MEDLINE]Related articlesFree article