更新于：2024-09-19

RLBP1

更新于：2024-09-19

基本信息

别名

Cellular retinaldehyde-binding protein、CRALBP、retinaldehyde binding protein 1

+ [2]

简介

Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.

关联

项与 RLBP1 相关的药物

CPK-850

靶点

RLBP1

作用机制

RLBP1刺激剂

在研机构

Novartis Pharmaceuticals Corp.

原研机构

Novartis Pharma AG

在研适应症

视网膜色素变性

非在研适应症-

最高研发阶段临床1/2期

首次获批国家/地区-

首次获批日期1800-01-20

HORA RLBP1

靶点

RLBP1

作用机制

RLBP1刺激剂

在研机构

Coave Therapeutics初创企业

原研机构

Atos SE [+1]

在研适应症

视网膜色素变性

非在研适应症

眼底白点症

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

项与 RLBP1 相关的临床试验

NCT03374657 / Active, not recruiting临床1/2期

An Open-label First-in-human Single Ascending Dose Study to Explore Safety, Tolerability and Efficacy of Subretinal Administration of CPK850 Gene Therapy in Patients With Retinitis Pigmentosa Due to Mutations in the Retinaldehyde Binding Protein 1 (RLBP1) Gene

The purpose of this first-in-human study is to explore the maximum tolerated dose (MTD) of CPK850 as determined by the single ascending dose ranging portion of the study. This study will also evaluate the safety and potential efficacy of CPK850 on improving visual function in patients with decreased visual function from RLBP1 retinitis pigmentosa due to biallelic mutations in the RLBP1 gene.

开始日期2018-08-22

申办/合作机构

Novartis Pharmaceuticals Corp.

100 项与 RLBP1 相关的临床结果

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100 项与 RLBP1 相关的转化医学

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0 项与 RLBP1 相关的专利（医药）

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371

项与 RLBP1 相关的文献（医药）

2024-11-01·American Journal of Ophthalmology

RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes

Article

作者: Bianco, Lorenzo ; Condroyer, Christel ; Audo, Isabelle ; Navarro, Julien ; Zeitz, Christina ; Antropoli, Alessio ; Sahel, José-Alain ; Benadji, Amine ; Antonio, Aline

PURPOSETo investigate the clinical, functional, and imaging characteristics in patients affected by inherited retinal diseases associated with RDH5 and RLBP1 gene variants, and to report novel genotype-phenotype correlations.DESIGNRetrospective single-center cohort study.METHODSTwenty-two patients with molecularly confirmed RLBP1-associated retinopathy and 5 with RDH5-associated retinopathy. Medical records were reviewed to obtain data on family history and ophthalmologic examinations, including retinal imaging and full-field electroretinography (ffERG). Genotype was determined by targeted next-generation sequencing followed by confirmation and familial segregation by Sanger sequencing.RESULTSThe median (interquartile ranges) age at baseline for the RDH5 and RLBP1 cohort was 44.6 (38.2-67.9) years and 36.9 (23.1-45.2) years, respectively. Macular atrophy (MA) was found in approximately 80% of eyes from both cohorts. The RLBP1 genotype was associated with a lower macular volume by 0.28 mm³ (95% CI, -0.46 to -0.11; P = .005) compared to the RDH5 genotype. In both genotypic cohorts, we found a significant annual rate of macular volume loss, estimated at -0.007 mm³/y (95% CI, -0.012 to -0.001; P = .02), without any significant difference between the two genotypes. Three unrelated patients homozygous for the c.361C>T p.(Arg121Trp) RLBP1 variant showed minimal impairment of both the rod and cone systems function on ffERG and absence of MA.CONCLUSIONSProgressive MA in addition to congenital night blindness can be identified in adult patients with RDH5-associated retinopathy. Vice versa, hypomorphic RLBP1 variants may cause milder retinal phenotypes rather than the typical severe rod-cone dystrophy with MA. These findings could prove beneficial to improve the prognostication of patients and help in designing future interventional trials.

2024-07-03·Genome Biology and Evolution

What Makes a Mimic? Orange, Red, and Black Color Production in the Mimic Poison Frog (Ranitomeya imitator)

Article

作者: Nielsen, Rasmus ; Rubio, Andrew O ; Stuckert, Adam M M ; Geralds, BreAnn ; MacManes, Matthew D ; Summers, Kyle

AbstractAposematic organisms rely on their conspicuous appearance to signal that they are defended and unpalatable. Such phenotypes are strongly tied to survival and reproduction. Aposematic colors and patterns are highly variable; however, the genetic, biochemical, and physiological mechanisms producing this conspicuous coloration remain largely unidentified. Here, we identify genes potentially affecting color variation in two color morphs of Ranitomeya imitator: the orange-banded Sauce and the redheaded Varadero morphs. We examine gene expression in black and orange skin patches from the Sauce morph and black and red skin patches from the Varadero morph. We identified genes differentially expressed between skin patches, including those that are involved in melanin synthesis (e.g. mlana, pmel, tyrp1), iridophore development (e.g. paics, ppat, ak1), pteridine synthesis (e.g. gch1, pax3-a, xdh), and carotenoid metabolism (e.g. dgat2, rbp1, scarb2). In addition, using weighted correlation network analysis, we identified the top 50 genes with high connectivity from the most significant network associated with gene expression differences between color morphs. Of these 50 genes, 13 were known to be related to color production (gch1, gmps, gpr143, impdh1, mc1r, pax3-a, pax7, ppat, rab27a, rlbp1, tfec, trpm1, xdh).

2024-05-01·Cell Reports

Dominant role for pigment epithelial CRALBP in supplying visual chromophore to photoreceptors

Article

作者: Kiser, Jianying Z ; Einstein, David E ; Choi, Elliot H ; Lewandowski, Dominik ; Palczewski, Krzysztof ; Kolesnikov, Alexander V ; Kefalov, Vladimir J ; Bassetto, Marco ; Kiser, Philip D ; Halabi, Maximilian

Cellular retinaldehyde-binding protein (CRALBP) supports production of 11-cis-retinaldehyde and its delivery to photoreceptors. It is found in the retinal pigment epithelium (RPE) and Müller glia (MG), but the relative functional importance of these two cellular pools is debated. Here, we report RPE- and MG-specific CRALBP knockout (KO) mice and examine their photoreceptor and visual cycle function. Bulk visual chromophore regeneration in RPE-KO mice is 15-fold slower than in controls, accounting for their delayed rod dark adaptation and protection against retinal phototoxicity, whereas MG-KO mice have normal bulk visual chromophore regeneration and retinal light damage susceptibility. Cone pigment regeneration is significantly impaired in RPE-KO mice but mildly affected in MG-KO mice, disclosing an unexpectedly strong reliance of cone photoreceptors on the RPE-based visual cycle. These data reveal a dominant role for RPE-CRALBP in supporting rod and cone function and highlight the importance of RPE cell targeting for CRALBP gene therapies.