{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:09:42Z","timestamp":1791353382152,"version":"4.3.1"},"reference-count":24,"publisher":"Society for Neuroscience","issue":"41","license":[{"start":{"date-parts":[[2013,4,10]],"date-time":"2013-04-10T00:00:00Z","timestamp":1365552000000},"content-version":"vor","delay-in-days":182,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Neurosci."],"published-print":{"date-parts":[[2012,10,10]]},"abstract":"<jats:p>Usher syndrome is the leading cause of genetic deaf\u2013blindness. Monoallelic mutations in<jats:italic>PDZD7<\/jats:italic>increase the severity of Usher type II syndrome caused by mutations in<jats:italic>USH2A<\/jats:italic>and<jats:italic>GPR98<\/jats:italic>, 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<jats:italic>PDZD7<\/jats:italic>being a modifier and candidate gene for USH2, and suggest that PDZD7 is a second scaffolding component of the ankle-link complex.<\/jats:p>","DOI":"10.1523\/jneurosci.3071-12.2012","type":"journal-article","created":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T18:54:32Z","timestamp":1349895272000},"page":"14288-14293","source":"Crossref","is-referenced-by-count":71,"title":["Localization of PDZD7 to the Stereocilia Ankle-Link Associates this Scaffolding Protein with the Usher Syndrome Protein Network"],"prefix":"10.1523","volume":"32","author":[{"given":"M'hamed","family":"Grati","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung-Bum","family":"Shin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael D.","family":"Weston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manzoor A.","family":"Bhat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter G.","family":"Gillespie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bechara","family":"Kachar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"393","published-online":{"date-parts":[[2012,10,10]]},"reference":[{"key":"2023041303591354000_32.41.14288.1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi416"},{"key":"2023041303591354000_32.41.14288.2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdf689"},{"key":"2023041303591354000_32.41.14288.3","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-21"},{"key":"2023041303591354000_32.41.14288.4","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth092"},{"key":"2023041303591354000_32.41.14288.5","doi-asserted-by":"publisher","DOI":"10.1172\/JCI39715"},{"key":"2023041303591354000_32.41.14288.6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1104161108"},{"key":"2023041303591354000_32.41.14288.7","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.03030"},{"key":"2023041303591354000_32.41.14288.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2009.04.006"},{"key":"2023041303591354000_32.41.14288.9","doi-asserted-by":"publisher","DOI":"10.1038\/nature06091"},{"key":"2023041303591354000_32.41.14288.10","doi-asserted-by":"publisher","DOI":"10.1038\/nn784"},{"key":"2023041303591354000_32.41.14288.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2010.12.046"},{"key":"2023041303591354000_32.41.14288.12","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0693-06.2006"},{"key":"2023041303591354000_32.41.14288.13","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0342-07.2007"},{"key":"2023041303591354000_32.41.14288.14","doi-asserted-by":"publisher","DOI":"10.1152\/physiol.00037.2011"},{"key":"2023041303591354000_32.41.14288.15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.030"},{"key":"2023041303591354000_32.41.14288.16","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200310055"},{"key":"2023041303591354000_32.41.14288.17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn395"},{"key":"2023041303591354000_32.41.14288.18","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2812-06.2006"},{"key":"2023041303591354000_32.41.14288.19","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201001138"},{"key":"2023041303591354000_32.41.14288.20","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1541-10.2010"},{"key":"2023041303591354000_32.41.14288.21","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1115866109"},{"key":"2023041303591354000_32.41.14288.22","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi490"},{"key":"2023041303591354000_32.41.14288.23","doi-asserted-by":"publisher","DOI":"10.2741\/3979"},{"key":"2023041303591354000_32.41.14288.24","doi-asserted-by":"crossref","unstructured":"Zinchuk V Zinchuk O (2008) Quantitative colocalization analysis of confocal fluorescence microscopy images. 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