Expanding the clinical and genetic spectrum of pathogenic variants in STIM1-Reference-Cited by-同舟云学术

Expanding the clinical and genetic spectrum of pathogenic variants in STIM1

Published:2021-08-26 Issue:5 Volume:64 Page:567-575
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle & Nerve

Author:

Ticci Chiara¹²,Cassandrini Denise¹,Rubegni Anna¹,Riva Beatrice³,Vattemi Gaetano⁴^ORCID,Matà Sabrina⁵,Ricci Giulia⁶,Baldacci Jacopo¹⁷,Guglielmi Valeria⁴,Di Muzio Antonio⁸,Malandrini Alessandro⁹,Tonin Paola⁴,Siciliano Gabriele⁶,Federico Antonio⁹,Genazzani Armando A.³,Santorelli Filippo M.¹,Merlini Luciano¹⁰

Affiliation:

1. IRCCS Fondazione Stella Maris Molecular Medicine Laboratory Pisa Italy

2. AOU Meyer Florence Italy

3. Department of Pharmaceutical Sciences Università del Piemonte Orientale Novara Italy

4. Department of Neuroscience, Biomedicine and Movement Sciences University of Verona Verona Italy

5. Careggi University Hospital, Neurology Unit Florence Italy

6. Department of Clinical and Experimental Medicine University of Pisa Pisa Italy

7. Kode s.r.l. Pisa Italy

8. Department of Neurology SS Annunziata Hospital Chieti Italy

9. Department of Medicine, Surgery and Neurosciences University of Siena Siena Italy

10. Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy

Funder

Ministero della Salute

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.27391

Reference40 articles.

1. Diseases caused by mutations inORAI1andSTIM1

2. Store-Operated Ca2+ Entry

3. Stored Ca2+ Depletion-induced Oligomerization of Stromal Interaction Molecule 1 (STIM1) via the EF-SAM Region

4. SOAR and the polybasic STIM1 domains gate and regulate Orai channels

5. A minimal regulatory domain in the C terminus of STIM1 binds to and activates ORAI1 CRAC channels

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