Publications

ITPR3 and CMT

2025 -- Variable severity presented in CMT1J patients

Danique Beijer, Maike F Dohrn, Adriana Rebelo, Matt C Danzi, Bianca Rose Grosz, Melina Ellis, Kishore R Kumar, Steve Vucic, Horia Vais, Jillian S Weissenrieder, Olesia Lunko, Usha Paudel, Leah C Simpson, Vladimir Camarena, Jacquelyn Raposo, Mario Saporta, Yeisha Arcia, Isaac Xu, Shawna Feely, Christopher J Record, Julian Blake, Mary M Reilly, Steven S Scherer, Marina Kennerson, Yi-Chung Lee, J Kevin Foskett, Michael E Shy, Stephan Zuchner, Inherited Neuropathy Consortium, A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity, Brain, Volume 148, Issue 1, January 2025, Pages 227–237, https://doi.org/10.1093/brain/awae206

2024 - Julius  Rönkkö's  PhD Thesis:  Charcot-Marie-Tooth disease type 1J

Abstract: Charcot-Marie-Tooth disease (CMT) is an incurable neurodegenerative disease of the peripheral nervous system, characterized by progressive distal motor and sensory impairment. CMT is the most common inherited neurological disease, affecting 1:2500 people. It is a heterogenous group of disorders, caused by variants in over 100 identified disease genes. Linked here.

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.

2014 -- ITPR3 is 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.

General Information about ITPR3

2025 - The first naturally occuring ITPR3 variant in a large mammal

Hytönen MK, Rönkkö J, Hundi S, Jokinen TS, Suonto E, Teräväinen E, Donner J, La Rovere R, Bultynck G, Ylikallio E, Tyynismaa H, Lohi H. IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta. PLoS Genet. 2025 Jan 13;21(1):e1011328. doi: 10.1371/journal.pgen.1011328. PMID: 39804930; PMCID: PMC11761660.

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.