Pathological Mechanism of a Constitutively Active Form of Stromal Interaction Molecule 1 in Skeletal Muscle

TRPCs: Influential Mediators in Skeletal Muscle

(2020) Jun Hee Choi et al.   Cells

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

(2019) Gilles Morin et al.   HUMAN MUTATION

A muscular hypotonia-associated STIM1 mutant at R429 induces abnormalities in intracellular Ca2+ movement and extracellular Ca2+ entry in skeletal muscle

(2019) Jun Hee Choi et al.   Scientific Reports

A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state

(2018) Marc Fahrner et al.   Nature Communications

Maintenance of Skeletal Muscle Mitochondria in Health, Exercise, and Aging

(2018) David A. Hood et al.   Annual Review of Physiology

STIM1 R304W causes muscle degeneration and impaired platelet activation in mice

(2018) Thilini H. Gamage et al.   CELL CALCIUM

STIM1 over-activation generates a multi-systemic phenotype affecting skeletal muscle, spleen, eye, skin, bones, and the immune system in mice

(2018) Roberto Silva-Rojas et al.   HUMAN MOLECULAR GENETICS

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature

(2018) Oscar Borsani et al.   Frontiers in Neurology

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

(2017) Elizabeth Harris et al.   NEUROMUSCULAR DISORDERS

STIM2 regulates both intracellular Ca2+ distribution and Ca2+ movement in skeletal myotubes

(2017) Mi Ri Oh et al.   Scientific Reports

Structural Basis for Gating and Activation of RyR1

(2016) Amédée des Georges et al.   CELL

Mitsugumin 53 regulates extracellular Ca2+ entry and intracellular Ca2+ release via Orai1 and RyR1 in skeletal muscle

(2016) Mi Kyoung Ahn et al.   Scientific Reports

STIM1 dimers undergo unimolecular coupling to activate Orai1 channels

(2015) Yandong Zhou et al.   Nature Communications

A Dominant STIM1 Mutation Causes Stormorken Syndrome

(2014) Doriana Misceo et al.   HUMAN MUTATION

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

(2014) V. Nesin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

(2013) Johann Böhm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

STIM1 negatively regulates Ca2+release from the sarcoplasmic reticulum in skeletal myotubes

(2013) Keon Jin Lee et al.   BIOCHEMICAL JOURNAL

Stromal interaction molecule 1 (STIM1) regulates sarcoplasmic/endoplasmic reticulum Ca2+-ATPase 1a (SERCA1a) in skeletal muscle

(2013) Keon Jin Lee et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Mitsugumin 53 attenuates the activity of sarcoplasmic reticulum Ca2+-ATPase 1a (SERCA1a) in skeletal muscle

(2012) Keon Jin Lee et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Hypertrophy in Skeletal Myotubes Induced by Junctophilin-2 Mutant, Y141H, Involves an Increase in Store-operated Ca2+Entry via Orai1

(2012) Jin Seok Woo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ca2+ channels and skeletal muscle diseases

(2010) Eun Hui Lee   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

The CRAC Channel Activator STIM1 Binds and Inhibits L-Type Voltage-Gated Calcium Channels

(2010) C. Y. Park et al.   SCIENCE