{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPDZD7 is a PDZ domain–containing scaffold protein that plays a crucial role in the inner ear by orchestrating the USH2 protein complex at the ankle links of developing cochlear hair cells. Studies using Pdzd7 knockout mouse models have demonstrated that the absence of PDZD7 leads to markedly disorganized stereocilia bundles, reduced mechanotransduction currents, and consequent congenital profound deafness, underscoring its essential role in auditory function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "PDZD7 also participates in specialized protein complexes by directly interacting with key partners such as MYO7A and, in an isoform-specific manner, with interactors like PIP5K1C. These interactions help ensure the precise localization and assembly of USH proteins at the ankle region and link the function of PDZD7 to the actin-based motor apparatus critical for normal stereocilia development and mechanotransduction."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "Further expanding its functional repertoire, additional novel PDZD7-binding proteins—including ADGRV1, gelsolin, and CADM1—have been identified through yeast two-hybrid screening. This broader interaction network suggests that PDZD7 is pivotal not only for scaffolding the USH2 complex but also for regulating cytoskeletal dynamics and trafficking events within inner ear hair cells, thereby contributing to both syndromic and nonsyndromic forms of hearing loss."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Junhuang Zou, Tihua Zheng, Chongyu Ren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddt629"}], "href": "https://doi.org/10.1093/hmg/ddt629"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24334608"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24334608"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Clive P Morgan, Jocelyn F Krey, M'hamed Grati, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PDZD7-MYO7A complex identified in enriched stereocilia membranes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.18312"}], "href": "https://doi.org/10.7554/eLife.18312"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27525485"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27525485"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Haibo Du, Linzhi Zou, Rui Ren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lack of PDZD7 long isoform disrupts ankle-link complex and causes hearing loss in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FASEB J (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1096/fj.201901657RR"}], "href": "https://doi.org/10.1096/fj.201901657RR"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31914662"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31914662"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Haibo Du, Rui Ren, Panpan Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of Binding Partners of Deafness-Related Protein PDZD7."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neural Plast (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2018/2062346"}], "href": "https://doi.org/10.1155/2018/2062346"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29796015"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29796015"}]}]}]}