ArticleProceedings of the National Academy of Sciences of the United States of America2004
Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 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
37 citing papers in PubMed, 70 citations in OpenAlex.
- Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.Molecular diagnosis & therapy · 2021Article
- REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.JCI insight · 2021Article
- Tmc proteins are essential for zebrafish hearing where Tmc1 is not obligatory.Human molecular genetics · 2020Article
- Gene duplication and functional divergence of the zebrafish otospiralin genes.Development genes and evolution · 2020Article
- Article
- The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.Scientific reports · 2018Article
- Multiplexed CRISPR/Cas9 Targeting of Genes Implicated in Retinal Regeneration and Degeneration.Frontiers in cell and developmental biology · 2018Article
- Magnetic nanoparticles: a strategy to target the choroidal layer in the posterior segment of the eye.Scientific reports · 2017Article
- Oncogenic role of rab escort protein 1 through EGFR and STAT3 pathway.Cell death & disease · 2017Article
- REP1 inhibits FOXO3-mediated apoptosis to promote cancer cell survival.Cell death & disease · 2017Article
- Article
- The zebrafish pinball wizard gene encodes WRB, a tail-anchored-protein receptor essential for inner-ear hair cells and retinal photoreceptors.The Journal of physiology · 2016Article
- Gene therapy for choroideremia using an adeno-associated viral (AAV) vector.Cold Spring Harbor perspectives in medicine · 2014Review
- Sensory hair cell regeneration in the zebrafish lateral line.Developmental dynamics : an official publication of the American Association of Anatomists · 2014Review
- Manipulation of BK channel expression is sufficient to alter auditory hair cell thresholds in larval zebrafish.The Journal of experimental biology · 2014Article
- Zebrafish--on the move towards ophthalmological research.Eye (London, England) · 2014Review
- Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient.Molecular therapy. Methods & clinical development · 2014Article
- Auditory sensitivity of larval zebrafish (Danio rerio) measured using a behavioral prepulse inhibition assay.The Journal of experimental biology · 2013Article
- Early development of hearing in zebrafish.Journal of the Association for Research in Otolaryngology : JARO · 2013Article
- The role of ear stone size in hair cell acoustic sensory transduction.Scientific reports · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
To identify genes important for hair-cell function, we conducted a mutagenic screen in zebrafish. Larvae from one mutant line, ru848, were unresponsive to acoustic stimuli and unable to balance. The mutation results in a 90% reduction in hair-cell number and partial retinal degeneration by 5 days postfertilization. We localized the recessive ru848 mutation by positional cloning to the zebrafish homolog of the human Choroideremia gene, which encodes Rab escort protein 1. This protein is essential for the normal prenylation of Rabs. Mutations in the human gene induce choroideremia, a disease marked by slow-onset degeneration of rod photoreceptors and retinal pigment epithelial cells. The degenerative phenotype resulting from a null mutation in the zebrafish gene indicates that hair cells and retinal cells require Rab escort protein 1 for survival.
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.