Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains-Reference-Cited by-同舟云学术

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

Published:2017-09 Issue:9 Volume:27 Page:861-872
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Harris Elizabeth,Burki Umar,Marini-Bettolo Chiara,Neri Marcella,Scotton Chiara,Hudson Judith,Bertoli Marta,Evangelista Teresinha,Vroling Bas,Polvikoski Tuomo,Roberts Mark,Töpf Ana,Bushby Kate,McArthur Daniel,Lochmüller Hanns,Ferlini Alessandra,Straub Volker,Barresi Rita

Funder

National Human Genome Research Institute

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference30 articles.

1. A dominant STIM1 mutation causes Stormorken syndrome;Misceo;Hum Mutat,2014

2. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis;Nesin;Proc Natl Acad Sci USA,2014

3. Gain-of-function mutation in STIM1 (P.R304W) is associated with Stormorken syndrome;Morin;Hum Mutat,2014

4. Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation;Noury;Neuromuscul Disord,2016

5. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy;Bohm;Am J Hum Genet,2013

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1. Adaptation of STIM1 structure-function relationships for optogenetic control of calcium signaling;Journal of Biological Chemistry;2024-09

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

3. The D84G mutation in STIM1 causes nuclear envelope dysfunction and myopathy in mice;Journal of Clinical Investigation;2024-02-01

4. Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning;PLOS ONE;2023-05-08

5. The D84G mutation in STIM1 causes nuclear envelope dysfunction and myopathy in mice;2023-05-04