STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39-Reference-Cited by-同舟云学术

STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39

Published:2022-07 Issue: Volume:105 Page:102605
ISSN:0143-4160
Container-title:Cell Calcium
language:en
Short-container-title:Cell Calcium

Author:

Riva Beatrice^ORCID,Pessolano Emanuela^ORCID,Quaglia Edoardo,Cordero-Sanchez Celia,Bhela Irene P.,Topf Ana,Serafini Marta^ORCID,Cox Daniel^ORCID,Harris Elizabeth,Garibaldi Matteo^ORCID,Barresi Rita^ORCID,Pirali Tracey^ORCID,Genazzani Armando A.^ORCID

Funder

Fondazione Telethon

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Physiology

Reference48 articles.

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3. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis;Nesin;Proc. Natl. Acad. Sci. U. S. A.,2014

4. Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca(2)(+) channels;Endo;Hum. Mol. Genet.,2015

5. Studies on the haemostatic defect in a complicated syndrome. An inverse Scott syndrome platelet membrane abnormality?;Stormorken;J. Thromb. Haemost.,1995

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4. Identification of Glucosidase II that regulates STIM1 activation dynamics;2024-04-22

5. ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome;JCI Insight;2024-03-05