Mangla A, Guerra MT, Nathanson MH. Type 3 inositol 1,4,5-trisphosphate receptor: A calcium channel for all seasons. Cell Calcium. 2020 Jan;85:102132. doi: 10.1016/j.ceca.2019.102132. Epub 2019 Nov 25. PMID: 31790953; PMCID: PMC6917836.
In 2014, it was identified as a candidate gene for neuropathy:
Schabhüttl M, Wieland T, Senderek J, Baets J, Timmerman V, De Jonghe P, Reilly MM, Stieglbauer K, Laich E, Windhager R, Erwa W, Trajanoski S, Strom TM, Auer-Grumbach M. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol. 2014 May;261(5):970-82. doi: 10.1007/s00415-014-7289-8. Epub 2014 Mar 15. PMID: 24627108.
2020 -- paper reports family with CMT from an ITPR3 mutation
Rönkkö J, Molchanova S, Revah-Politi A, Pereira EM, Auranen M, Toppila J, Kvist J, Ludwig A, Neumann J, Bultynck G, Humblet-Baron S, Liston A, Paetau A, Rivera C, Harms MB, Tyynismaa H, Ylikallio E. Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease. Ann Clin Transl Neurol. 2020 Oct;7(10):1962-1972. doi: 10.1002/acn3.51190. Epub 2020 Sep 19. PMID: 32949214; PMCID: PMC7545616.
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