Ask about this productRelated genes to: LCA5 antibody
- Gene:
- LCA5 NIH gene
- Name:
- lebercilin LCA5
- Previous symbol:
- C6orf152
- Synonyms:
- -
- Chromosome:
- 6q14.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-02-23
- Date modifiied:
- 2019-01-21
Related products to: LCA5 antibody
Related articles to: LCA5 antibody
- Ciliopathies comprise a spectrum of disorders involving mutations in over 150 genes affecting the primary cilium, with retinal degeneration as a prominent feature driven by concomitant developmental and maturation defects in photoreceptors and the retinal pigment epithelium (RPE). Current single-gene-targeted therapeutic approaches are expensive with limited scalability. We hypothesize that downstream of primary cilium dysfunction, mutation-agnostic shared pathways initiate tissue defects. To test this hypothesis, we here develop induced pluripotent stem cell-derived RPE models (iRPE) from nine (BBS1, BBS10, BBS16, CEP290, LCA5, MYO7A, PRPF31) patients with ciliopathy with severe retinal degeneration. Despite heterogeneity in disease severity, consistent with underlying ciliary structural defects, all ciliopathy iRPE exhibit abnormal epithelial polarization and impaired mitochondrial health initiated by dysregulated TGF-β signaling-driven mesenchymal drift. Addressing these gene-agnostic disease phenotypes, our study identifies two drugs, pioglitazone, a mitochondrial metabolic modulator, and galunisertib, a TGFBR1 inhibitor, as potential therapeutic candidates for multiple ciliopathy subtypes. - Source: PubMed
Publication date: 2026/08/28
Reichert DominikGul SenaOrtolan DavideMcGaughey DavidMontford JairRyu JiwonJeffrey Alyssa SLewallen Colby FVeres KatiVillasmil RafaelWhite Carreiro Noor DTsang Stephen HHuryn Laryssa ABrooks Brian PZein WadihMay-Simera Helen LouiseSharma RuchiBharti Kapil
- Source: PubMed
- To characterize an asymptomatic carrier of ocular albinism without a known family history of visual impairment. Chart review of the patient's medical records. Genetic testing revealed a deletion of exon 3 in her gene (LCA5 c.1273 deletion). The patient showed characteristics of heterozygous carrier status for alterations, including linear pigmentary changes in the fundus. This case is notable for the absence of a known family history of visual impairment and may represent a sporadic deletion. Further studies are needed to examine genetic variants and deletions with ocular albinism type 1. - Source: PubMed
Publication date: 2025/10/31
Flynn ErinCheela IshaKaden Talia R - We assessed the preliminary safety of a recombinant adeno-associated virus serotype 8 vector carrying the native human LCA5 cDNA (OPGx-001) in LCA5-associated Leber congenital amaurosis (LCA5-LCA), a congenital blindness. This phase 1b/2a trial (NCT05616793) is a nonrandomized, single ascending, dose-escalation study. Three subjects with LCA5-LCA (ages 19, 26, and 34 years old) received uniocular subretinal injections of 1E10 vector genome per eye of OPGx-001. There were no serious adverse events related to OPGx-001 or the procedure. Retinal microstructure by spectral-domain optical coherence tomography showed no major changes in retinal lamination of the treated central retina compared with the contralateral control. Efficacy was detectable in these severely affected patients by subjective and objective methods at 1-month post-treatment and persisted for at least 12 months. Chromatic full-field stimulus testing showed improvements in cone-mediated vision averaging ∼1 log unit. Objective pupillometry confirmed perceptual results. Improvements were associated with better performance on a virtual reality orientation and mobility test. Visual acuity returned to baseline or improved in the treated eyes of all participants. The favorable safety profile and efficacy outcomes pave the path for enrolling milder phenotypes with careful dose escalation. - Source: PubMed
Publication date: 2025/07/01
Aleman Tomas SUyhazi Katherine ERoman Alejandro JWeber Mariejel LO'Neil Erin CSwider MalgorzataSumaroka AlexanderMaguire Katherine HAleman Elena MSantos Arlene JKim Rebecca JParchinski Kelsey MBillek AndrewFradin MakaylaChung WilliamMargaritis ParisSun JunweiScoles Drew HWu VivianGarafalo Alexandra VJayagopal AshwathYerxa BenTuller SarahMaguire Albert MBennett JeanCideciyan Artur V - - Source: PubMed
Publication date: 2025/05/19
Athanasiou DimitraAfanasyeva Tess A VChai NiuzhengZiaka KalliopiJovanovic KatarinaGuarascio RosellinaBoldt KarstenCorral-Serrano Julio CKanuga NaheedRoepman RonaldCollin Rob W JCheetham Michael E