The Ca2+ Sensor STIM in Human Diseases

Store-operated calcium entry: From physiology to tubular aggregate myopathy

(2023) Feliciano Protasi et al.   CURRENT OPINION IN PHARMACOLOGY

Activation mechanisms and structural dynamics of STIM proteins

(2023) Matthias Sallinger et al.   JOURNAL OF PHYSIOLOGY-LONDON

Familial 4p Interstitial Deletion Provides New Insights and Candidate Genes Underlying This Rare Condition

(2023) Jing Di et al.   Genes

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

(2022) Beatrice Riva et al.   CELL CALCIUM

Mapping interactions between the CRAC activation domain and CC1 regulating the activity of the ER Ca2+ sensor STIM1

(2022) Nisha Shrestha et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1 ‐related diseases

(2021) Alexandra Salvi et al.   CLINICAL GENETICS

Auxora for the Treatment of Patients With Acute Pancreatitis and Accompanying Systemic Inflammatory Response Syndrome

(2021) Charles Bruen et al.   PANCREAS

Expanding the clinical and genetic spectrum of pathogenic variants in STIM1

(2021) Chiara Ticci et al.   MUSCLE & NERVE

Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report

(2021) Li-Jun Jiang et al.   Frontiers in Neurology

Physiological Functions of CRAC Channels

(2021) Scott M. Emrich et al.   Annual Review of Physiology

Conformational dynamics of auto-inhibition in the ER calcium sensor STIM1

(2021) Stijn van Dorp et al.   eLife

A familial t(4;8) translocation segregates with epilepsy and migraine with aura

(2020) Milena Crippa et al.   Annals of Clinical and Translational Neurology

Interhelical interactions within the STIM1 CC1 domain modulate CRAC channel activation

(2020) Petr Rathner et al.   Nature Chemical Biology

A first‐in‐human study to evaluate the safety, tolerability and pharmacokinetics of RP3128, an oral calcium release‐activated calcium (CRAC) channel modulator in healthy volunteers

(2020) Prajak J. Barde et al.   JOURNAL OF CLINICAL PHARMACY AND THERAPEUTICS

CRAC Channels And Disease – From Human CRAC Channelopathies And Animal Models To Novel Drugs

(2019) Stefan Feske   CELL CALCIUM

EB1 binding restricts STIM1 translocation to ER–PM junctions and regulates store-operated Ca2+entry

(2018) Chi-Lun Chang et al.   JOURNAL OF CELL BIOLOGY

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

(2018) Marc Fahrner et al.   Nature Communications

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

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

Role of STIM2 in cell function and physiopathology

(2017) Alejandro Berna-Erro et al.   JOURNAL OF PHYSIOLOGY-LONDON

Stim2-Eb3 Association and Morphology of Dendritic Spines in Hippocampal Neurons

(2017) Ekaterina Pchitskaya et al.   Scientific Reports

Molecular mechanisms of STIM/Orai communication

(2016) Isabella Derler et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

STIM and calcium channel complexes in cancer

(2016) Isaac Jardin et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay

(2016) Liyang Liang et al.   CYTOGENETIC AND GENOME RESEARCH

Diseases caused by mutations inORAI1andSTIM1

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

A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency

(2015) Heidi Schaballie et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

(2015) Thomas Markello et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Missense mutation in immunodeficient patients shows the multifunctional roles of coiled-coil domain 3 (CC3) in STIM1 activation

(2015) Mate Maus et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inside-out Ca2+ signalling prompted by STIM1 conformational switch

(2015) Guolin Ma et al.   Nature Communications

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

(2014) Gilles Morin et al.   HUMAN MUTATION

A Dominant STIM1 Mutation Causes Stormorken Syndrome

(2014) Doriana Misceo et al.   HUMAN MUTATION

A Coiled-coil Clamp Controls Both Conformation and Clustering of Stromal Interaction Molecule 1 (STIM1)

(2014) Marc Fahrner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

STIM1 and SLC24A4 Are Critical for Enamel Maturation

(2014) S. Wang et al.   JOURNAL OF DENTAL RESEARCH

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

Distinct Orai-coupling domains in STIM1 and STIM2 define the Orai-activating site

(2014) Xizhuo Wang et al.   Nature Communications

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

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

The polybasic lysine-rich domain of plasma membrane-resident STIM1 is essential for the modulation of store-operated divalent cation entry by extracellular calcium

(2013) Isaac Jardin et al.   CELLULAR SIGNALLING

Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14)

(2013) Chih-Ping Chen et al.   GENE

STIM1/Orai1 coiled-coil interplay in the regulation of store-operated calcium entry

(2013) Peter B. Stathopulos et al.   Nature Communications

Calcium signalling remodelling and disease

(2012) Michael J. Berridge   BIOCHEMICAL SOCIETY TRANSACTIONS

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

STIM1 couples to ORAI1 via an intramolecular transition into an extended conformation

(2011) Martin Muik et al.   EMBO JOURNAL

STIM1 and STIM2 Are Located in the Acidic Ca2+Stores and Associates with Orai1 upon Depletion of the Acidic Stores in Human Platelets

(2011) Hanene Zbidi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

STIM1L is a new actin-binding splice variant involved in fast repetitive Ca2+release

(2011) Basile Darbellay et al.   JOURNAL OF CELL BIOLOGY

Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency

(2011) S. Fuchs et al.   JOURNAL OF IMMUNOLOGY

Auto-inhibitory role of the EF-SAM domain of STIM proteins in store-operated calcium entry

(2011) L. Zheng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis

(2010) Helge Stormorken et al.   CLINICAL GENETICS

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

CRAC channelopathies

(2010) Stefan Feske   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

The York Platelet Syndrome: A third case

(2010) James G. White et al.   PLATELETS

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

(2009) Chan Young Park et al.   CELL

An EB1-Binding Motif Acts as a Microtubule Tip Localization Signal

(2009) Srinivas Honnappa et al.   CELL

A Cytosolic Homomerization and a Modulatory Domain within STIM1 C Terminus Determine Coupling to ORAI1 Channels

(2009) Martin Muik et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SOAR and the polybasic STIM1 domains gate and regulate Orai channels

(2009) Joseph P. Yuan et al.   NATURE CELL BIOLOGY

STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

(2009) Capucine Picard et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2008) Peter B. Stathopulos et al.   CELL

Thrombin induces activation and translocation of Bid, Bax and Bak to the mitochondria in human platelets

(2008) J. J. LOPEZ et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Oligomerization of STIM1 couples ER calcium depletion to CRAC channel activation

(2008) Riina M. Luik et al.   NATURE