Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
about
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FMyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomesFunctional characterization of the human myosin-7a motor domainThe unconventional myosin-VIIa associates with lysosomesMutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complexUsher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyThe many different cellular functions of MYO7A in the retinaA comprehensive review of retinal gene therapyUnconventional myosin VIIA is a novel A-kinase-anchoring proteinMyosin superfamily evolutionary historyPosition statement on human agingAbnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B proteinRetinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomesThe Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65The role of Rab27a in the regulation of melanosome distribution within retinal pigment epithelial cellsUsher syndrome: Hearing loss, retinal degeneration and associated abnormalities.myosin 7aa(-/-) mutant zebrafish show mild photoreceptor degeneration and reduced electroretinographic responses.Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.Dimerized Drosophila myosin VIIa: a processive motor.The ternary Rab27a-Myrip-Myosin VIIa complex regulates melanosome motility in the retinal pigment epithelium.A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells.Function of MYO7A in the human RPE and the validity of shaker1 mice as a model for Usher syndrome 1BRetinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.Myosin7a deficiency results in reduced retinal activity which is improved by gene therapy.Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.Impacts of Usher syndrome type IB mutations on human myosin VIIa motor functionUnconventional myosins and the genetics of hearing loss.Recent advances in the molecular basis of inherited photoreceptor degeneration.Changes in localization and expression levels of Shroom2 and spectrin contribute to variation in amphibian egg pigmentation patternsUnconventional myosins: anchors in the membrane traffic relay.Mitochondrial DNA variants mediate energy production and expression levels for CFH, C3 and EFEMP1 genes: implications for age-related macular degeneration.Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward geneticsQuantitative genetic analysis of retinal degeneration in the blind cavefish Astyanax mexicanus.Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B.Distinct functional interactions between actin isoforms and nonsarcomeric myosinsClinical characteristics and current therapies for inherited retinal degenerationsModerate light-induced degeneration of rod photoreceptors with delayed transducin translocation in shaker1 mice.Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A
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P2860
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
description
1998 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունիսին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1998
@ast
im Juni 1998 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1998/06/01)
@sk
vědecký článek publikovaný v roce 1998
@cs
wetenschappelijk artikel (gepubliceerd op 1998/06/01)
@nl
наукова стаття, опублікована в червні 1998
@uk
name
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
@ast
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
@en
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
@nl
type
label
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
@ast
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
@en
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
@nl
prefLabel
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
@ast
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
@en
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
@nl
P2093
P2860
P356
P1433
P1476
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
@en
P2093
P2860
P2888
P304
P356
10.1038/470
P407
P577
1998-06-01T00:00:00Z