Calcium release into the cytosol via the inositol 1,4,5-trisphosphate receptor (IP3R) calcium channel is important for a variety of cellular processes. As a result, impairment or inhibition of this release can result in disease. Recently, mutations in all four domains of the IP3R have been suggested to cause diseases such as ataxia, cancer, and anhidrosis; however, most of these mutations have not been functionally characterized. In this review we summarize the reported mutations, as well as the associated symptoms. Additionally, we use clues from transgenic animals, receptor stoichiometry, and domain location of mutations to speculate on the effects of individual mutations on receptor structure and function and the overall mechanism of disease.
{"title":"Inositol 1,4,5-trisphosphate Receptor Mutations associated with Human Disease.","authors":"L. Terry, K. Alzayady, Esraa Furati, D. Yule","doi":"10.1166/MSR.2018.1075","DOIUrl":"https://doi.org/10.1166/MSR.2018.1075","url":null,"abstract":"Calcium release into the cytosol via the inositol 1,4,5-trisphosphate receptor (IP3R) calcium channel is important for a variety of cellular processes. As a result, impairment or inhibition of this release can result in disease. Recently, mutations in all four domains of the IP3R have been suggested to cause diseases such as ataxia, cancer, and anhidrosis; however, most of these mutations have not been functionally characterized. In this review we summarize the reported mutations, as well as the associated symptoms. Additionally, we use clues from transgenic animals, receptor stoichiometry, and domain location of mutations to speculate on the effects of individual mutations on receptor structure and function and the overall mechanism of disease.","PeriodicalId":74176,"journal":{"name":"Messenger (Los Angeles, Calif. : Print)","volume":"6 1-2 1","pages":"29-44"},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1166/MSR.2018.1075","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48671333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Seminal CD38: Ever-Expanding Breadth of Its Function in Reproductive Biology","authors":"U. Kim","doi":"10.1166/msr.2018.1065","DOIUrl":"https://doi.org/10.1166/msr.2018.1065","url":null,"abstract":"","PeriodicalId":74176,"journal":{"name":"Messenger (Los Angeles, Calif. : Print)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47691064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shirin Akther, Jing Zhong, Mingkun Liang, Stanislav M. Cherepanov, O. Lopatina, A. Salmina, C. Tsuji, T. Tsuji, Yasuhiko Yamamoto, S. Yokoyama, H. Higashida
{"title":"CD38 in the Nucleus Accumbens is Critical in Paternal Behavior in Mice","authors":"Shirin Akther, Jing Zhong, Mingkun Liang, Stanislav M. Cherepanov, O. Lopatina, A. Salmina, C. Tsuji, T. Tsuji, Yasuhiko Yamamoto, S. Yokoyama, H. Higashida","doi":"10.1166/MSR.2018.1063","DOIUrl":"https://doi.org/10.1166/MSR.2018.1063","url":null,"abstract":"","PeriodicalId":74176,"journal":{"name":"Messenger (Los Angeles, Calif. : Print)","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42063183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Modulation of IP3 Receptor Stability and Its Implication in Cell Death and Disease","authors":"Bruno Seitaj, G. Bultynck, Hristina Ivanova","doi":"10.1166/msr.2018.1071","DOIUrl":"https://doi.org/10.1166/msr.2018.1071","url":null,"abstract":"","PeriodicalId":74176,"journal":{"name":"Messenger (Los Angeles, Calif. : Print)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1166/msr.2018.1071","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48454572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Hashii, Yukie Tanaka, Y. Higuchi, Ryosuke Gabata, Makoto Tsubomoto, Noriko Iwatsuka, Mitsuyo Teramachi, T. Kamijima, S. Yokoyama, S. Matsukawa, H. Higashida
{"title":"A Ca2+-Calmodulin-Dependent Protein Kinase II Inhibitor Suppresses Cell Migration of CD38-Expressing Human Embryonic Kidney Cells: A Preliminary Report","authors":"M. Hashii, Yukie Tanaka, Y. Higuchi, Ryosuke Gabata, Makoto Tsubomoto, Noriko Iwatsuka, Mitsuyo Teramachi, T. Kamijima, S. Yokoyama, S. Matsukawa, H. Higashida","doi":"10.1166/MSR.2018.1064","DOIUrl":"https://doi.org/10.1166/MSR.2018.1064","url":null,"abstract":"","PeriodicalId":74176,"journal":{"name":"Messenger (Los Angeles, Calif. : Print)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1166/MSR.2018.1064","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43936513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
O. Lopatina, Satoka Kasai, Stanislav M. Cherepanov, Kazumi Furuhara, T. Yoshihara, A. Shabalova, M. Gerasimenko, C. Tsuji, S. Yokoyama, H. Higashida, A. Salmina
{"title":"The Contributions of Cd38 and Cd157 Gene Deletion in Neurobehavioral Outcomes","authors":"O. Lopatina, Satoka Kasai, Stanislav M. Cherepanov, Kazumi Furuhara, T. Yoshihara, A. Shabalova, M. Gerasimenko, C. Tsuji, S. Yokoyama, H. Higashida, A. Salmina","doi":"10.1166/MSR.2018.1067","DOIUrl":"https://doi.org/10.1166/MSR.2018.1067","url":null,"abstract":"","PeriodicalId":74176,"journal":{"name":"Messenger (Los Angeles, Calif. : Print)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49298888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Possible Involvement of the Dopaminergic System in Emotional Deficiency in CD157/BST1 Knockout Mice","authors":"T. Yoshihara, K. Shiba, K. Ishihara, H. Higashida","doi":"10.1166/MSR.2018.1070","DOIUrl":"https://doi.org/10.1166/MSR.2018.1070","url":null,"abstract":"","PeriodicalId":74176,"journal":{"name":"Messenger (Los Angeles, Calif. : Print)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49636525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
T. Tsuji, Mingkun Liang, O. Lopatina, Teruko Yuhi, C. Tsuji, Jing Zhong, Shirin Akther, Tomoko Nishimura, S. Amina, Hong-Xiang Liu, M. Hashii, Kazumi Furuhara, Yasuhiko Yamamoto, S. Yokoyama, H. Higashida
{"title":"TRPM2, a New Player, in Cyclic ADP-Ribose/CD38-Dependent Oxytocin Release in the Hypothalamus","authors":"T. Tsuji, Mingkun Liang, O. Lopatina, Teruko Yuhi, C. Tsuji, Jing Zhong, Shirin Akther, Tomoko Nishimura, S. Amina, Hong-Xiang Liu, M. Hashii, Kazumi Furuhara, Yasuhiko Yamamoto, S. Yokoyama, H. Higashida","doi":"10.1166/MSR.2018.1068","DOIUrl":"https://doi.org/10.1166/MSR.2018.1068","url":null,"abstract":"","PeriodicalId":74176,"journal":{"name":"Messenger (Los Angeles, Calif. : Print)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1166/MSR.2018.1068","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43119491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"New Insights into the Gating Mechanism of the IP3 Receptor","authors":"K. Hamada, K. Mikoshiba","doi":"10.1166/msr.2018.1072","DOIUrl":"https://doi.org/10.1166/msr.2018.1072","url":null,"abstract":"","PeriodicalId":74176,"journal":{"name":"Messenger (Los Angeles, Calif. : Print)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1166/msr.2018.1072","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46075829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Special Section on the Sixth NAD (Asian 3) Meeting in 2017","authors":"H. Higashida","doi":"10.1166/msr.2018.1062","DOIUrl":"https://doi.org/10.1166/msr.2018.1062","url":null,"abstract":"","PeriodicalId":74176,"journal":{"name":"Messenger (Los Angeles, Calif. : Print)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47644245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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