{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T07:14:12Z","timestamp":1791616452769,"version":"4.3.4"},"reference-count":49,"publisher":"National Academy of Sciences","issue":"48","license":[{"start":{"date-parts":[[2019,5,14]],"date-time":"2019-05-14T00:00:00Z","timestamp":1557792000000},"content-version":"vor","delay-in-days":181,"URL":"http:\/\/www.pnas.org\/site\/aboutpnas\/licenses.xhtml"}],"funder":[{"DOI":"10.13039\/501100001691","name":"MEXT | Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["25221002"],"award-info":[{"award-number":["25221002"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"MEXT | Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["18K06540"],"award-info":[{"award-number":["18K06540"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. 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We demonstrated that pathological mutations in IP\n                    <jats:sub>3<\/jats:sub>\n                    R1 disrupt IP\n                    <jats:sub>3<\/jats:sub>\n                    R1 channel activity either by reducing IP\n                    <jats:sub>3<\/jats:sub>\n                    -binding affinity or hindering channel gating elicited by IP\n                    <jats:sub>3<\/jats:sub>\n                    binding. Furthermore, disease-causing mutations in IP\n                    <jats:sub>3<\/jats:sub>\n                    R1 or carbonic anhydrase-related protein VIII (CA8), an IP\n                    <jats:sub>3<\/jats:sub>\n                    R1-regulating protein abundantly expressed in cerebellar neurons, abrogated the IP\n                    <jats:sub>3<\/jats:sub>\n                    R1\u2013CA8 interaction and CA8-mediated regulation of IP\n                    <jats:sub>3<\/jats:sub>\n                    R1. These results suggest that aberrant calcium homeostasis in cerebellar neurons caused by dysfunctions of IP\n                    <jats:sub>3<\/jats:sub>\n                    R1 are responsible for SCA pathogenesis.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1811129115","type":"journal-article","created":{"date-parts":[[2018,11,14]],"date-time":"2018-11-14T18:25:21Z","timestamp":1542219921000},"page":"12259-12264","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":81,"title":["Aberrant IP\n                    <sub>3<\/sub>\n                    receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29"],"prefix":"10.1073","volume":"115","author":[{"given":"Hideaki","family":"Ando","sequence":"first","affiliation":[{"name":"Laboratory for Developmental Neurobiology, RIKEN Center for Brain Science, Wako, Saitama 351-0198, 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