Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
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Myosin-7a is required for the apical localization of melanosomes.
“Studies on shaker1 mice identified the requirement of an unconventional myosin, myosin-7a, for the apical localization of melanosomes (Liu et al., 1998).”
From The cell biology of the retinal pigment epithelium (2020) · cites this paper as Liu et al., 1998
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A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies
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Ca 2+ -Induced Rigidity Change of the Myosin VIIa IQ Motif-Single α Helix Lever Arm Extension
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Recent advances in the molecular basis of inherited photoreceptor degeneration
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A binding protein regulates myosin-7a dimerization and actin bundle assembly
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Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7APreprint
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Self-citationHuman myosin VIIa is a very slow processive motor protein on various cellular actin structures
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Human embryo and early fetus research
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Self-citationPhagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy
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Myosins in melanocytes: to move or not to move?
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Searching for evidence of DFNB2
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- Authors
- Liu, X., Ondek, B., & Williams, D. S.
- Affiliations
- University of California San Diego (US)
- Corresponding author
- Williams, David S.
- ORCID
- Williams, David S.
- Venue
- Nature Genetics
- Published
- 1998-06
- Volume
- 19
- Issue
- 2
- Pages
- 117-118
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- DOI
- 10.1038/470
- OpenAlex
- W2097275111
- Cited by
- 168
- References
- 11
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 3 · 2023: 5 · 2022: 3 · 2021: 3 · 2020: 4 · 2019: 3 · 2018: 3 · 2017: 7 · 2016: 3 · 2015: 3 · 2014: 10 · 2013: 9 · 2012: 4
- FWCI
- 2.91
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Eye Institute (R01EY007042, EY07042)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
- Keywords
- MYO7A, retinal pigment epithelium, Usher syndrome, retinal degeneration
- MeSH terms
- Myosin VIIa, Animals, Blindness, Deafness, Disease Models, Animal, Dyneins, Melanocytes, Mice, Mutant Strains, Mutation, Myosins, Pigment Epithelium of Eye, Syndrome, Mice
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