{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:16:29Z","timestamp":1790889389798,"version":"4.1.0"},"reference-count":76,"publisher":"National Academy of Sciences","issue":"9","license":[{"start":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T00:00:00Z","timestamp":1708473600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2024,2,27]]},"abstract":"<jats:p>\n                    Nascent proteins destined for the cell membrane and the secretory pathway are targeted to the endoplasmic reticulum (ER) either posttranslationally or cotranslationally. The signal-independent pathway, containing the protein TMEM208, is one of three pathways that facilitates the translocation of nascent proteins into the ER. The in vivo function of this protein is ill characterized in multicellular organisms. Here, we generated a CRISPR-induced null allele of the fruit fly ortholog\n                    <jats:italic>CG8320\/Tmem208<\/jats:italic>\n                    by replacing the gene with the\n                    <jats:italic>Kozak-GAL4<\/jats:italic>\n                    sequence. We show that\n                    <jats:italic>Tmem208<\/jats:italic>\n                    is broadly expressed in flies and that its loss causes lethality, although a few short-lived flies eclose. These animals exhibit wing and eye developmental defects consistent with impaired cell polarity and display mild ER stress. Tmem208 physically interacts with Frizzled (Fz), a planar cell polarity (PCP) receptor, and is required to maintain proper levels of Fz. Moreover, we identified a child with compound heterozygous variants in\n                    <jats:italic>TMEM208<\/jats:italic>\n                    who presents with developmental delay, skeletal abnormalities, multiple hair whorls, cardiac, and neurological issues, symptoms that are associated with PCP defects in mice and humans. Additionally, fibroblasts of the proband display mild ER stress. Expression of the reference human\n                    <jats:italic>TMEM208<\/jats:italic>\n                    in flies fully rescues the loss of\n                    <jats:italic>Tmem208<\/jats:italic>\n                    , and the two proband-specific variants fail to rescue, suggesting that they are loss-of-function alleles. In summary, our study uncovers a role of TMEM208 in development, shedding light on its significance in ER homeostasis and cell polarity.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2322582121","type":"journal-article","created":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T13:41:18Z","timestamp":1708522878000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":10,"title":["Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability"],"prefix":"10.1073","volume":"121","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0989-7013","authenticated-orcid":false,"given":"Debdeep","family":"Dutta","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oguz","family":"Kanca","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rishi V.","family":"Shridharan","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8011-7852","authenticated-orcid":false,"given":"Paul C.","family":"Marcogliese","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Steger","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Morimoto","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. 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