The DOI matches its Crossref record; 101 of the 105 references it cites were found in a registry or an index.
Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy
Open accessAbstract
Usher syndrome is a deafness-blindness disorder. The blindness occurs from a progressive retinal degeneration that begins after deafness and after the retina has developed. Three clinical subtypes of Usher syndrome have been identified, with mutations in any one of six different genes giving rise to type 1, in any one of three different genes to type 2, and in one identified gene causing Usher type 3. Mutant mice for most of the genes have been studied; while they have clear inner ear defects, retinal phenotypes are relatively mild and have been difficult to characterize. The retinal functions of the Usher proteins are still largely unknown. Protein binding studies have suggested many interactions among the proteins, and a model of interaction among all the proteins in the photoreceptor synapse has been proposed. However this model is not supported by localization data from some laboratories, or the indication of any synaptic phenotype in mutant mice. An earlier suggestion, based on patient pathologies, of Usher protein function in the photoreceptor cilium continues to gain support from immunolocalization and mutant mouse studies, which are consistent with Usher protein interaction in the photoreceptor ciliary/periciliary region. So far, the most characterized Usher protein is myosin VIIa. It is present in the apical RPE and photoreceptor ciliary/periciliary region, where it is required for organelle transport and clearance of opsin from the connecting cilium, respectively. Usher syndrome is amenable to gene replacement therapy, but also has some specific challenges. Progress in this treatment approach has been achieved by correction of mutant phenotypes in Myo7a-null mouse retinas, following lentiviral delivery of MYO7A.
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“A delay in the clearance of phagosomes from the actin-rich, apical RPE has been detected in Myo7a mutant RPE, but unlike that observed here with Klc1−/− mice, there was no delay in phagosome degradation detectable in vivo (Gibbs et al., 2003), and Myo7a mutant mice do not undergo detectable RPE pathogenesis (Williams, 2008).”
From Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis (2015) · cites this paper as Williams, 2008
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Defective myosin VIIA gene responsible for Usher syndrome type IB
Well, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., et al. (1995) · Nature · doi:10.1038/374060a0 · Cited by 1,068
A type VII myosin encoded by the mouse deafness gene shaker-1
Gibson, F., Walsh, J. C., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P., & Brown, S. D. M. (1995) · Nature · doi:10.1038/374062a0 · Cited by 682
Retinitis pigmentosa. The Friedenwald Lecture.
Berson, E. L. (1993) · PubMed · Cited by 633
Bork, J. M., Peters, L. M., Riazuddin, S., Bernstein, S. L., Ahmed, Z. M., Ness, S. L., Polomeno, R. C., Ramesh, A., Schloss, M. D., Srisailapathy, C. R. S., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/316954 · Cited by 553
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
Bolz, H. J., von Brederlow, B., Ramı́rez, A., Bryda, E. C., Kutsche, K., Nothwang, H. G., Seeliger, M. W., Cabrera, M. D. C.-S., Vila, M. C., Molina, O. P., et al. (2001) · Nature Genetics · doi:10.1038/83667 · Cited by 495
Verpy, E., Leibovici, M., Zwaenepoel, I., Liu, X.-Z., Gal, A., Salem, N., Mansour, A. M., Blanchard, S., Kobayashi, I., Keats, B. J. B., et al. (2000) · Nature Genetics · doi:10.1038/79171 · Cited by 469
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
Liu, X.-Z., Walsh, J., Mburu, P., Kendrick‐Jones, J., Cope, M. J. T. V., Steel, K. P., & Brown, S. D. M. (1997) · Nature Genetics · doi:10.1038/ng0697-188 · Cited by 468
Boëda, B., El‐Amraoui, A., Bahloul, A., Goodyear, R. J., Daviet, L., Blanchard, S., Perfettini, I., Fath, K. R., Shorte, S. L., Reiners, J., et al. (2002) · The EMBO Journal · doi:10.1093/emboj/cdf689 · Cited by 447
Palma, F. D., Holme, R. H., Bryda, E. C., Belyantseva, I. A., Pellegrino, R., Kachar, B., Steel, K. P., & Noben‐Trauth, K. (2001) · Nature Genetics · doi:10.1038/83660 · Cited by 430
Hasson, T., Heintzelman, M. B., Santos-Sacchi, J., Corey, D. P., & Mooseker, M. S. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.21.9815 · Cited by 427
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4 of the 105 references couldn’t be matched to a known paper.
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- Berson, 1993, Retinitis pigmentosa, Investigative Ophthalmology & Visual Science, 34, 1659
- Leibreich, 1861, Abkunft und Eben unter Blutsverwandten als Grund von Retinitis Pigmentosa, Deutsch Klinicheskaia, 13, 53
- Usher, 1914, On the inheritance of retinitis pigmentosa with notes of cases, Royal Society of London in Ophthalmology and Hospital Reports, 19, 130
- von Graefe, 1858, Vereinzelte Beobachtungen und Bemerkungen Exceptionelle Verhalten des Gesichtsfeldes bei Pigmentenartung des Netzhaut, Archives in Klinicheskaia Ophthalmology, 4, 250
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The molecular basis of human retinal and vitreoretinal diseases
Berger, W., Kloeckener‐Gruissem, B., & Neidhardt, J. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.03.004 · Cited by 609
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities
Mathur, P. D., & Yang, J. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.11.020 · Cited by 351
Kimberling, W. J., Hildebrand, M. S., Shearer, A. E., Jensen, M. L., Halder, J. A., Trzupek, K. M., Cohn, E. S., Weleber, R. G., Stone, E. M., & Smith, R. J. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181e5afb8 · Cited by 269
Sung, C.-H., & Chuang, J.-Z. (2010) · The Journal of Cell Biology · doi:10.1083/jcb.201006020 · Cited by 240
Hearing Loss: Mechanisms Revealed by Genetics and Cell Biology
Dror, A. A., & Avraham, K. B. (2009) · Annual Review of Genetics · doi:10.1146/annurev-genet-102108-134135 · Cited by 210
Metadata
- Authors
- Williams, D. S.
- Affiliations
- University of California San Diego (US)
- Corresponding author
- Williams, David S.
- ORCID
- Williams, David S.
- Venue
- Vision Research
- Publisher
- Elsevier BV
- Published
- 2008-02
- Volume
- 48
- Issue
- 3
- Pages
- 433-441
- ISSN
- 0042-6989 (ISSN-L)
- PMC
- PMC2680226
- OpenAlex
- W2117841202
- Cited by
- 188
- References
- 105
- Citations by year
- 2026: 6 · 2025: 8 · 2024: 6 · 2023: 10 · 2022: 8 · 2021: 8 · 2020: 5 · 2019: 7 · 2018: 6 · 2017: 6 · 2016: 6 · 2015: 7 · 2014: 11 · 2013: 11 · 2012: 19
- FWCI
- 1.16
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Vision Research (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Eye Institute (R01EY007042, EY07042)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Connexins and lens biology
- Keywords
- Usher syndrome, retinal degeneration, MYO7A, photoreceptor synapses, connecting cilium, organelle transport, retinal pigment epithelium, lentiviral gene therapy, mutant mouse models, protein-protein interaction
- MeSH terms
- Myosin VIIa, Animals, Disease Models, Animal, Dyneins, Eye Proteins, Humans, Mutation, Myosins, Retina, Genetic Therapy, Mice, Usher Syndromes
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