Associated Papers
A Charcot-Marie-Tooth Disease Type 1J Case With Diffuse Thickening of Peripheral Nerves.
Zhu X et al.
Neurology, 2025
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
Beijer D et al.
Brain : a Journal of Neurology, 2025
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.
Blanco E et al.
The Journal of Experimental Medicine, 2025
IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.
Hytönen MK et al.
Plos Genetics, 2025
ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.
Cabello-Murgui J et al.
European Journal of Neurology, 2024
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Record CJ et al.
Brain : a Journal of Neurology, 2024
Functional investigation of a putative calcium-binding site involved in the inhibition of inositol 1,4,5-trisphosphate receptor activity.
Arige V et al.
Biorxiv : the Preprint Server for Biology, 2024
Lessons and pitfalls of whole genome sequencing.
Record CJ et al.
Practical Neurology, 2024
Type 3 IP3 receptor: Its structure, functions, and related disease implications.
Wu L et al.
Channels (austin, Tex.), 2023
Missense mutations in inositol 1,4,5-trisphosphate receptor type 3 result in leaky Ca2+ channels and activation of store-operated Ca2+ entry.
Terry LE et al.
Iscience, 2022
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Rönkkö J et al.
Annals of Clinical and Translational Neurology, 2020
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