| http://purl.uniprot.org/citations/23055499 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23055499 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23055499 | http://www.w3.org/2000/01/rdf-schema#comment | "Usher syndrome is the leading cause of genetic deaf-blindness. Monoallelic mutations in PDZD7 increase the severity of Usher type II syndrome caused by mutations in USH2A and GPR98, which respectively encode usherin and GPR98. PDZ domain-containing 7 protein (PDZD7) is a paralog of the scaffolding proteins harmonin and whirlin, which are implicated in Usher type 1 and type 2 syndromes. While usherin and GPR98 have been reported to form hair cell stereocilia ankle-links, harmonin localizes to the stereocilia upper tip-link density and whirlin localizes to both tip and ankle-link regions. Here, we used mass spectrometry to show that PDZD7 is expressed in chick stereocilia at a comparable molecular abundance to GPR98. We also show by immunofluorescence and by overexpression of tagged proteins in rat and mouse hair cells that PDZD7 localizes to the ankle-link region, overlapping with usherin, whirlin, and GPR98. Finally, we show in LLC-PK1 cells that cytosolic domains of usherin and GPR98 can bind to both whirlin and PDZD7. These observations are consistent with PDZD7 being a modifier and candidate gene for USH2, and suggest that PDZD7 is a second scaffolding component of the ankle-link complex."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.org/dc/terms/identifier | "doi:10.1523/jneurosci.3071-12.2012"xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.org/dc/terms/identifier | "doi:10.1523/jneurosci.3071-12.2012"xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Green J."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Green J."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Bhat M.A."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Bhat M.A."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Gillespie P.G."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Gillespie P.G."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Grati M."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Grati M."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Kachar B."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Kachar B."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Shin J.B."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Shin J.B."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Weston M.D."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/author | "Weston M.D."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/name | "J. Neurosci."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/name | "J. Neurosci."xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/pages | "14288-14293"xsd:string |
| http://purl.uniprot.org/citations/23055499 | http://purl.uniprot.org/core/pages | "14288-14293"xsd:string |