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Leber congenital amaurosis 5

LCA5, Lebercilin
This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009] (from NCBI)
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Top mentioned proteins: LCa, CRB1, CEP290, NKH, p63
Papers on LCA5
Genetic modifiers of response to glucose-insulin-potassium (GIK) infusion in acute coronary syndromes and associations with clinical outcomes in the IMMEDIATE trial.
Peter et al., New York City, United States. In Pharmacogenomics J, Dec 2015
Variants within or near TAS1R3, LCA5, DNAH5, PTPRG, MAGI1, PTCSC3, STRADA, AKAP12, ARFGEF2, ADCYAP1, SETX, NDRG4 and ABCB11 modified glucose response, and near CSF1/AHCYL1 potassium response (P2df⩽4.26
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.
van Wijk et al., Nijmegen, Netherlands. In Plos Genet, Oct 2015
Ninein-like protein (NINL) is known to associate with this motor complex and is an important interaction partner of the ciliopathy-associated proteins lebercilin, USH2A and CC2D2A.
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
Cremers et al., Islamabad, Pakistan. In Plos One, 2014
In addition, based on population specific mutation data we performed targeted Sanger sequencing (TSS) of frequent variants in AIPL1, CEP290, CRB1, GUCY2D, LCA5, RPGRIP1 and TULP1, in probands from 28 LCA families.
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.
Ayyagari et al., Lahore, Pakistan. In Plos One, 2014
RESULTS: We identified a total of nine causal mutations, including six novel variants in RPE65, LCA5, USH2A, CNGB1, FAM161A, CERKL and GUCY2D as the underlying cause of inherited retinal degenerations in 13 of 26 pedigrees.
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
Langmann et al., Köln, Germany. In Hum Mol Genet, 2014
Co-immunolabeling experiments demonstrated reduced expression and mislocalization of centrin 3 and disturbed targeting of the Fam161a interactors lebercilin and Cep290, which were restricted to the basal body and proximal connecting cilium in Fam161a(GT/GT) retinas.
Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry.
Boldt et al., Tübingen, Germany. In Mol Cell Proteomics, 2014
By applying this new method to a cellular transport module, the IFT/lebercilin complex, we demonstrate its ability to determine modular composition as well as sensitively detect known and novel complex components.
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
Sharon et al., Jerusalem, Israel. In Invest Ophthalmol Vis Sci, 2014
The mutations were identified in the following eight genes: RDH12, PROM1, MFRP, TULP1, LCA5, CEP290, NR2E3, and EYS.
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
Ayuso et al., Madrid, Spain. In Ophthalmology, 2014
OBJECTIVE: We aimed to identify novel genetic defects in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish population and to describe the associated phenotype.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Koenekoop et al., London, United Kingdom. In Hum Mutat, 2013
However, in two families with the milder EORD, the LCA5 gene analysis revealed a homozygous splice site mutation in one and a stop mutation in combination with a missense mutation in a second family, suggesting that this milder phenotype is due to residual function of lebercilin and expanding the currently known phenotypic spectrum to include the milder early onset RP.
Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.
Zhang et al., Guangzhou, China. In Invest Ophthalmol Vis Sci, 2013
In the latter 12 families, mutations were found in CEP290 (three probands); GUCY2D (two probands); and CRB1, CRX, RPE65, IQCB1, LCA5, TULP1, and IMPDH1 (one proband each).
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
Rivolta et al., Lausanne, Switzerland. In Hum Mol Genet, 2013
Yeast two-hybrid analysis of binary interactions between FAM161A and an array of ciliary and ciliopathy-associated proteins reveals direct interaction with lebercilin, CEP290, OFD1 and SDCCAG8, all involved in hereditary retinal degeneration.
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Bolz et al., Quetta, Pakistan. In Mol Vis, 2010
A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts.
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
de Brouwer et al., Nijmegen, Netherlands. In Am J Hum Genet, 2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.
Park et al., South Korea. In Ophthalmic Genet, 2009
This result shows that mutation in LCA5 is likely to be a rare genetic cause in Koreans
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.
Stone et al., Philadelphia, United States. In Mol Vis, 2008
Leber congenital amaurosis 2 patients with LCA5 mutation had evidence of retained photoreceptors mainly in the central retina; retinal remodeling was present in pericentral regions
Leber congenital amaurosis: genes, proteins and disease mechanisms.
Cremers et al., Nijmegen, Netherlands. In Prog Retin Eye Res, 2008
Recently, several defects were identified that are likely to affect intra-photoreceptor ciliary transport processes (CEP290, LCA5, RPGRIP1, TULP1).
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.
Kumaramanickavel et al., Chennai, India. In Mol Vis, 2007
This is the second report of LCA5 mutations causing Leber congenital amaurosis.
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
Roepman et al., Nijmegen, Netherlands. In Nat Genet, 2007
The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5.
Leber Congenital Amaurosis
Beattie et al., Seattle, United States. In Unknown Journal, 2004
Pathogenic variants in 17 genes are known to cause LCA: GUCY2D (locus name: LCA1), RPE65 (LCA2), SPATA7 (LCA3), AIPL1 (LCA4), LCA5 (LCA5), RPGRIP1 (LCA6), CRX (LCA7), CRB1 (LCA8), NMNAT1 (LCA9), CEP290 (LCA10), IMPDH1 (LCA11), RD3 (LCA12), RDH12 (LCA13), LRAT (LCA14), TULP1 (LCA15),KCNJ13 (LCA16), and IQCB1.
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