2018
DOI: 10.1016/j.exer.2018.05.015
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Usherin defects lead to early-onset retinal dysfunction in zebrafish

Abstract: Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model does not mimic the human phenotype, because it presents with only a mild and late-onset retinal degeneration. Using … Show more

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Cited by 58 publications
(104 citation statements)
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“…33,34 The loss of function znf408 zebrafish models (as in znf408 rmc103/rmc103 and znf408 rmc104/rmc104 ) showed defective retinal vasculature development and only mild visual impairment in visuomotor assay, particularly if compared with the visual impairment observed in retinitis pigmentosa zebrafish models. [35][36][37] One explanation for this is that the visuomotor assay we used here is not sensitive enough, and alternatives (e.g., electroretinogram recordings, optokinetic response measurements) would be needed. Thus, it is yet to be determined how (predicted) loss of function of znf408 (as in znf408 rmc103/rmc103 and znf408 rmc104/rmc104 ) showed a retinal vasculature phenotype instead of retinitis pigmentosa-like symptoms in zebrafish.…”
Section: Discussionmentioning
confidence: 99%
“…33,34 The loss of function znf408 zebrafish models (as in znf408 rmc103/rmc103 and znf408 rmc104/rmc104 ) showed defective retinal vasculature development and only mild visual impairment in visuomotor assay, particularly if compared with the visual impairment observed in retinitis pigmentosa zebrafish models. [35][36][37] One explanation for this is that the visuomotor assay we used here is not sensitive enough, and alternatives (e.g., electroretinogram recordings, optokinetic response measurements) would be needed. Thus, it is yet to be determined how (predicted) loss of function of znf408 (as in znf408 rmc103/rmc103 and znf408 rmc104/rmc104 ) showed a retinal vasculature phenotype instead of retinitis pigmentosa-like symptoms in zebrafish.…”
Section: Discussionmentioning
confidence: 99%
“…These Ush2a mutant mice models have provided information on the role of usherin in the auditory system, but limited data on the visual system. Usherin protein appears to be functional in zebrafish despite them lacking a full-length protein (Dona et al, 2018). In addition, ush2a knockout zebrafish have been generated successfully and these exhibit auditory abnormalities and retinal degeneration, replicating the disease phenotypes of human USH2A patients (Han et al, 2018).…”
Section: Animal Modelsmentioning
confidence: 94%
“…Usherin is a large protein comprised of a number of domains ( Figure 3A; Eudy et al, 1998;Weston et al, 2000;Sheng and Sala, 2001;Dona et al, 2018). USH2A has two isoforms, A and B, with isoform B being the predominant form in retina ( Figure 3A; Liu et al, 2007;Toms et al, 2015).…”
Section: Structurementioning
confidence: 99%
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