Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy

Moving neuromuscular disorders research forward: from novel models to clinical studies

(2020) Maaike van Putten et al.   Disease Models & Mechanisms

Synthesis and Characterization of Store-Operated Calcium Entry Inhibitors Active in the Submicromolar Range

(2020) Camille Le Guilcher et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The Orai1 inhibitor BTP2 has multiple effects on Ca2+ handling in skeletal muscle

(2020) Aldo Meizoso-Huesca et al.   JOURNAL OF GENERAL PHYSIOLOGY

DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass

(2019) Giulia Favaro et al.   Nature Communications

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

(2019) Gilles Morin et al.   HUMAN MUTATION

A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy

(2019) Celia Cordero-Sanchez et al.   Disease Models & Mechanisms

Sequential activation of STIM1 links Ca2+ with luminal domain unfolding

(2019) Romana Schober et al.   Science Signaling

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

Mitochondrial dynamics coordinate cell differentiation

(2018) Masafumi Noguchi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

CRAC Channels as Targets for Drug Discovery and Development

(2018) Kenneth A. Stauderman   CELL CALCIUM

The effect of differentiation and TGFβ on mitochondrial respiration and mitochondrial enzyme abundance in cultured primary human skeletal muscle cells

(2018) Christoph Hoffmann et al.   Scientific Reports

Myoblast fusion confusion: the resolution begins

(2018) Srihari C. Sampath et al.   Skeletal Muscle

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome

(2018) Johann Böhm et al.   CELL CALCIUM

STIM1 R304W causes muscle degeneration and impaired platelet activation in mice

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

Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease

(2018) Antonio Michelucci 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

Pyrtriazoles, a Novel Class of Store-Operated Calcium Entry Modulators: Discovery, Biological Profiling, and in Vivo Proof-of-Concept Efficacy in Acute Pancreatitis

(2018) Beatrice Riva et al.   JOURNAL OF MEDICINAL CHEMISTRY

Calcium sensing by the STIM1 ER-luminal domain

(2018) Aparna Gudlur et al.   Nature Communications

Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy

(2017) Virginia Barone et al.   HUMAN MUTATION

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

(2017) Johann Böhm et al.   HUMAN MUTATION

Intracellular Ca 2+ Sensing: Its Role in Calcium Homeostasis and Signaling

(2017) Rafaela Bagur et al.   MOLECULAR CELL

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

(2017) Elizabeth Harris et al.   NEUROMUSCULAR DISORDERS

Growth hormone secretagogues prevent dysregulation of skeletal muscle calcium homeostasis in a rat model of cisplatin-induced cachexia

(2017) Elena Conte et al.   Journal of Cachexia Sarcopenia and Muscle

Calcium signaling in skeletal muscle development, maintenance and regeneration

(2016) Michelle K. Tu et al.   CELL CALCIUM

Why Calcium? How Calcium Became the Best Communicator

(2016) Ernesto Carafoli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Diseases caused by mutations inORAI1andSTIM1

(2015) Rodrigo S. Lacruz et al.   Annals of the New York Academy of Sciences

Mitophagy is required for mitochondrial biogenesis and myogenic differentiation of C2C12 myoblasts

(2015) Jon Sin et al.   Autophagy

50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation

(2015) Maggie C. Walter et al.   NEUROMUSCULAR DISORDERS

Enhanced Ca2+ influx from STIM1–Orai1 induces muscle pathology in mouse models of muscular dystrophy

(2014) Sanjeewa A. Goonasekera et al.   HUMAN MOLECULAR GENETICS

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels

(2014) Yukari Endo et al.   HUMAN MOLECULAR GENETICS

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

(2014) Johann Böhm et al.   JOURNAL OF MEDICAL GENETICS

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

(2014) Carola Hedberg et al.   JOURNAL OF NEUROLOGY

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

Signaling Mechanisms in Mammalian Myoblast Fusion

(2013) S. M. Hindi et al.   Science Signaling

Orai1-dependent calcium entry promotes skeletal muscle growth and limits fatigue

(2013) Lan Wei-LaPierre et al.   Nature Communications

Positive feedback control between STIM1 and NFATc3 is required for C2C12 myoblast differentiation

(2012) Tam Thi Thanh Phuong et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

STIM1-Ca2+ Signaling Is Required for the Hypertrophic Growth of Skeletal Muscle in Mice

(2012) T. Li et al.   MOLECULAR AND CELLULAR BIOLOGY

Inhibition of Akt Activity and Calcium Channel Function Coordinately Drive Cell-Cell Fusion in the BeWO Choriocarcinoma Placental Cell Line

(2012) Manu Vatish et al.   PLoS One

Structural and mechanistic insights into the activation of Stromal interaction molecule 1 (STIM1)

(2012) X. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Method for the Direct Identification of Differentiating Muscle Cells by a Fluorescent Mitochondrial Dye

(2011) Tetsuaki Miyake et al.   PLoS One

STIM1 as a key regulator for Ca2+ homeostasis in skeletal-muscle development and function

(2011) Santeri Kiviluoto et al.   Skeletal Muscle

The role of store-operated calcium influx in skeletal muscle signaling

(2010) Jonathan A. Stiber et al.   CELL CALCIUM

Human Muscle Economy Myoblast Differentiation and Excitation-Contraction Coupling Use the Same Molecular Partners, STIM1 and STIM2

(2010) Basile Darbellay et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Impaired Orai1-mediated Resting Ca2+Entry Reduces the Cytosolic [Ca2+] and Sarcoplasmic Reticulum Ca2+Loading in Quiescent Junctophilin 1 Knock-out Myotubes

(2010) Hongli Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

STIM1 Clusters and Activates CRAC Channels via Direct Binding of a Cytosolic Domain to Orai1

(2009) Chan Young Park et al.   CELL

The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments

(2009) S. A. Bustin et al.   CLINICAL CHEMISTRY

The integrative function of TRPC channels

(2009) Kirill Kiselyov   Frontiers in Bioscience-Landmark

The molecular physiology of CRAC channels

(2009) Murali Prakriya   IMMUNOLOGICAL REVIEWS

The cell boundary theorem: a simple law of the control of cytosolic calcium concentration

(2009) Eduardo Ríos   Journal of Physiological Sciences

Structural and Mechanistic Insights into STIM1-Mediated Initiation of Store-Operated Calcium Entry

(2008) Peter B. Stathopulos et al.   CELL

Cooperative Synergy between NFAT and MyoD Regulates Myogenin Expression and Myogenesis

(2008) Anne-Sophie Armand et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

STIM1- and Orai1-dependent Store-operated Calcium Entry Regulates Human Myoblast Differentiation

(2008) Basile Darbellay et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TRPC1 regulates skeletal myoblast migration and differentiation

(2008) M. Louis et al.   JOURNAL OF CELL SCIENCE

STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle

(2008) Jonathan Stiber et al.   NATURE CELL BIOLOGY