Missense mutations in inositol 1,4,5-trisphosphate receptor type 3 result in leaky Ca2+ channels and activation of store-operated Ca2+ entry

Summary: Mutations in all subtypes of the inositol 1,4,5-trisphosphate receptor Ca2+ release channel are associated with human diseases. In this report, we investigated the functionality of three neuropathy-associated missense mutations in IP3R3 (V615M, T1424M, and R2524C). The mutants only exhibite...

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Bibliographic Details

Published in:	iScience
Main Authors:	Lara E. Terry, Vikas Arige, Julika Neumann, Amanda M. Wahl, Taylor R. Knebel, James W. Chaffer, Sundeep Malik, Adrian Liston, Stephanie Humblet-Baron, Geert Bultynck, David I. Yule
Format:	Article
Language:	English
Published:	Elsevier 2022-12-01
Subjects:	Molecular biology Molecular neuroscience Cell biology
Online Access:	http://www.sciencedirect.com/science/article/pii/S2589004222017953