ArticleHuman molecular genetics2012
Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 41 citations in OpenAlex.
- Development of Retinal Astroglia.Annual review of vision science · 2025Review
- An entosis-like process induces mitotic disruption in Pals1 microcephaly pathogenesis.Nature communications · 2023Article
- Novel Compound Heterozygous Variations inCells · 2022Article
- Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model.PLoS genetics · 2022Article
- Identification and characterization of Crumbs polarity complex proteins in Caenorhabditis elegans.The Journal of biological chemistry · 2022Article
- De novo variants in MPP5 cause global developmental delay and behavioral changes.Human molecular genetics · 2020Article
- Cytoglobin deficiency potentiates Crb1-mediated retinal degeneration in rd8 mice.Developmental biology · 2020Article
- Yap/Taz are required for establishing the cerebellar radial glia scaffold and proper foliation.Developmental biology · 2020Article
- A clinical and molecular characterisation of CRB1-associated maculopathy.European journal of human genetics : EJHG · 2018Article
- Cross talk between the Crumbs complex and Hippo signaling in renal epithelial cells.Pflugers Archiv : European journal of physiology · 2017Review
- Pals1 Haploinsufficiency Results in Proteinuria and Cyst Formation.Journal of the American Society of Nephrology : JASN · 2017Article
- Yap is essential for retinal progenitor cell cycle progression and RPE cell fate acquisition in the developing mouse eye.Developmental biology · 2016Article
- Neonatal disease environment limits the efficacy of retinal transplantation in the LCA8 mouse model.BMC ophthalmology · 2016Article
- The apical complex protein Pals1 is required to maintain cerebellar progenitor cells in a proliferative state.Development (Cambridge, England) · 2016Article
- CRB2 completes a fully expressed Crumbs complex in the Retinal Pigment Epithelium.Scientific reports · 2015Article
- Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex.Cell reports · 2015Article
- A transient wave of BMP signaling in the retina is necessary for Müller glial differentiation.Development (Cambridge, England) · 2015Article
- Common and distinctive localization patterns of Crumbs polarity complex proteins in the mammalian eye.Gene expression patterns : GEP · 2015Article
- Transgenic expression of constitutively active RAC1 disrupts mouse rod morphogenesis.Investigative ophthalmology & visual science · 2014Article
- Dual function of Yap in the regulation of lens progenitor cells and cellular polarity.Developmental biology · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Mutation of the polarity gene Crumbs homolog 1 (CRB1) is responsible for >10% of Leber congenital amaurosis (LCA) cases worldwide; LCA is characterized by early-onset degenerative retinal dystrophy. The role of CRB1 in LCA8 pathogenesis remains elusive since Crb1 mouse mutants, including a null allele, have failed to mimic the early-onset of LCA, most likely due to functional compensation by closely related genes encoding Crb2 and Crb3. Crb proteins form an evolutionarily conserved, apical polarity complex with the scaffolding protein associated with lin-seven 1 (Pals1), also known as MAGUK p55 subfamily member 5 (MPP5). Pals1 and Crbs are functionally inter-dependent in establishing and maintaining epithelial polarity. Pals1 is a single gene in the mouse and human genomes; therefore, we ablated Pals1 to establish a mouse genetic model mimicking human LCA. In our study, the deletion of Pals1 leads to the disruption of the apical localization of Crb proteins in retinal progenitors and the adult retina, validating their mutual interaction. Remarkably, the Pals1 mutant mouse exhibits the critical features of LCA such as early visual impairment as assessed by electroretinogram, disorganization of lamination and apical junctions and retinal degeneration. Our data uncover the indispensible role of Pals1 in retinal development, likely involving the maintenance of retinal polarity and survival of retinal neurons, thus providing the basis for the pathologic mechanisms of LCA8.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.