Associated Papers
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
37964426 (PubMed )
Supplement: MDS-39-141-s002.docx
Binding of the erlin1/2 complex to the third intralumenal loop of IP3R1 triggers its ubiquitin-proteasomal degradation.
Gao X et al.
The Journal of Biological Chemistry, 2022
Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update.
Gambardella J et al.
Journal of Clinical Medicine, 2020
Inositol 1,4,5-trisphosphate Receptor Mutations associated with Human Disease.
Terry LE et al.
Messenger (los Angeles, Calif. : Print), 2018
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Gerber S et al.
American Journal of Human Genetics, 2016
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