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Literature DB >> 17249594

Roles and interactions of usher 1 proteins in the outer retina.

Concepción Lillo¹, Junko Kitamoto, David S Williams.

Abstract

Our studies demonstrate that harmonin and myosin VIIa are not localized in the same compartments in the mouse and human retinas, indicating that they do not interact in this organ, contrary to what has been shown in the inner ear. The enrichment of harmonin in the photoreceptor synapses indicates that this protein may form multiple complexes with others to maintain the synaptic structure or to mediate in the release of synaptic vesicles.

Entities: Gene Species

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Year: 2006 PMID： 17249594 DOI： 10.1007/0-387-32442-9_48

Source DB: PubMed Journal: Adv Exp Med Biol ISSN： 0065-2598 Impact factor: 2.622

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Cited

7 in total

1. Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.

Authors: Ling-Hui Qu; Xin Jin; Hai-Wei Xu; Shi-Ying Li; Zheng-Qin Yin
Journal: Mol Genet Genomics Date: 2014-09-25 Impact factor: 3.291

2. Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.

Authors: Marisa Zallocchi; Joseph H Sisson; Dominic Cosgrove
Journal: Biochemistry Date: 2010-02-16 Impact factor: 3.162

3. Uncovering molecular biomarkers that correlate cognitive decline with the changes of hippocampus' gene expression profiles in Alzheimer's disease.

Authors: Martín Gómez Ravetti; Osvaldo A Rosso; Regina Berretta; Pablo Moscato
Journal: PLoS One Date: 2010-04-13 Impact factor: 3.240

7. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

Authors: Samer Khateb; Lina Zelinger; Tamar Ben-Yosef; Saul Merin; Ornit Crystal-Shalit; Menachem Gross; Eyal Banin; Dror Sharon
Journal: PLoS One Date: 2012-12-12 Impact factor: 3.240

7 in total

Roles and interactions of usher 1 proteins in the outer retina.

1. Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.

2. Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.

3. Uncovering molecular biomarkers that correlate cognitive decline with the changes of hippocampus' gene expression profiles in Alzheimer's disease.

Review 4. Usher protein functions in hair cells and photoreceptors.

5. Role for a novel Usher protein complex in hair cell synaptic maturation.

6. Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration.

7. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.