{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T07:14:24Z","timestamp":1772176464288,"version":"3.50.1"},"update-to":[{"DOI":"10.1371\/journal.pgen.1011328","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T00:00:00Z","timestamp":1737676800000}}],"reference-count":52,"publisher":"Public Library of Science (PLoS)","issue":"1","license":[{"start":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T00:00:00Z","timestamp":1736726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["353008"],"award-info":[{"award-number":["353008"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["338875"],"award-info":[{"award-number":["338875"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["361596"],"award-info":[{"award-number":["361596"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Wisdom Health"},{"DOI":"10.13039\/501100003756","name":"Biomedicum Helsinki-s\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003756","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019841","name":"Suomalais-Norjalainen L\u00e4\u00e4ketieteen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019841","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004155","name":"Magnus Ehrnroothin S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004155","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Doctoral Program in Biomedicine"},{"name":"KU Leuven Research Council","award":["C14\/19\/099 and AKUL\/19\/34"],"award-info":[{"award-number":["C14\/19\/099 and AKUL\/19\/34"]}]},{"name":"Research Foundation \u2013 Flanders","award":["W0.014.22N; G081821N; G094522N"],"award-info":[{"award-number":["W0.014.22N; G081821N; G094522N"]}]}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"abstract":"<jats:p>\n                    Inositol 1,4,5-trisphosphate receptors (IP\n                    <jats:sub>3<\/jats:sub>\n                    R) mediate Ca\n                    <jats:sup>2+<\/jats:sup>\n                    release from intracellular stores, contributing to complex regulation of numerous physiological responses. The involvement of the three IP\n                    <jats:sub>3<\/jats:sub>\n                    R genes (\n                    <jats:italic>ITPR1<\/jats:italic>\n                    ,\n                    <jats:italic>ITPR2<\/jats:italic>\n                    and\n                    <jats:italic>ITPR3<\/jats:italic>\n                    ) in inherited human diseases has started to shed light on the essential roles of each receptor in different human tissues and cell types. Variants in the\n                    <jats:italic>ITPR3<\/jats:italic>\n                    gene, which encodes IP\n                    <jats:sub>3<\/jats:sub>\n                    R3, have recently been found to cause demyelinating sensorimotor Charcot-Marie-Tooth neuropathy type 1J (CMT1J). In addition to peripheral neuropathy, immunodeficiency and tooth abnormalities are occasionally present. Here, we report the identification of a homozygous nonsense variant in the\n                    <jats:italic>ITPR3<\/jats:italic>\n                    gene in Lancashire Heeler dogs, presenting with a severe developmental enamel defect and reduced nerve conduction velocity. We studied the primary skin fibroblasts of the affected dogs and observed that the nonsense variant in\n                    <jats:italic>ITPR3<\/jats:italic>\n                    led to a complete absence of full-length IP\n                    <jats:sub>3<\/jats:sub>\n                    R3 protein. Unexpectedly, the protein levels of IP\n                    <jats:sub>3<\/jats:sub>\n                    R1 and IP\n                    <jats:sub>3<\/jats:sub>\n                    R2 were also markedly decreased, suggesting co-regulation. Functional Ca\n                    <jats:sup>2+<\/jats:sup>\n                    measurements revealed reduced IP\n                    <jats:sub>3<\/jats:sub>\n                    R-mediated Ca\n                    <jats:sup>2+<\/jats:sup>\n                    flux upon stimulation of G-protein-coupled-receptors in the affected dog fibroblasts. These findings highlight the first spontaneous mammalian phenotype caused by a nonsense variant in\n                    <jats:italic>ITPR3<\/jats:italic>\n                    , leading to the loss of IP\n                    <jats:sub>3<\/jats:sub>\n                    R3. The human and canine IP\n                    <jats:sub>3<\/jats:sub>\n                    R3 proteins are highly similar, and our study suggests that the tissue involvement resulting from the receptor\u2019s dysfunction is also conserved. In summary, IP\n                    <jats:sub>3<\/jats:sub>\n                    R3 is critical for enamel formation and peripheral nerve maintenance.\n                  <\/jats:p>","DOI":"10.1371\/journal.pgen.1011328","type":"journal-article","created":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T14:06:49Z","timestamp":1736777209000},"page":"e1011328","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":0,"title":["IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta"],"prefix":"10.1371","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1976-5874","authenticated-orcid":true,"given":"Marjo 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Rovere","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geert","family":"Bultynck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5178-0703","authenticated-orcid":true,"given":"Emil","family":"Ylikallio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2493-2422","authenticated-orcid":true,"given":"Henna","family":"Tyynismaa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1087-5532","authenticated-orcid":true,"given":"Hannes","family":"Lohi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2025,1,13]]},"reference":[{"issue":"4","key":"pgen.1011328.ref001","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a035063","article-title":"Structure 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