Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

No abstract is available for this paper.

• Publication year

  2014

• Venue

  Journal of Neurology

• Publication date

  2014-02-26

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00415-014-7287-xPMID 24570283
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

  2013influential reference
• Morphological spectrum and clinical features of myopathies with tubular aggregates.

  2013cited by this paper
• Tubular aggregates in skeletal muscle: just a special type of protein aggregates?

  2012cited by this paper
• A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

  2012cited by this paper
• A framework for variation discovery and genotyping using next-generation DNA sequencing data

  2011cited by this paper
• STIM1 as a key regulator for Ca2+ homeostasis in skeletal-muscle development and function

  2011cited by this paper
• Auto-inhibitory role of the EF-SAM domain of STIM proteins in store-operated calcium entry

  2011cited by this paper
• In pursuit of the glycogen–[Ca2+] connection

  2011cited by this paper
• The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

  2010cited by this paper
• Functional compartmentation of glycogen phosphorylase with creatine kinase and Ca2+ ATPase in skeletal muscle.

  2006cited by this paper
• STIM1, an essential and conserved component of store-operated Ca2+ channel function

  2005cited by this paper
• STIM1 is a Ca2+ sensor that activates CRAC channels and migrates from the Ca2+ store to the plasma membrane

  2005cited by this paper
• STIM is a Ca2+ sensor essential for Ca2+-store-depletion-triggered Ca2+ influx.

  2005cited by this paper
• Store-operated calcium channels.

  2005cited by this paper
• Early-onset myopathy with tubular aggregates.

  1996cited by this paper
• A model for receptor-regulated calcium entry.

  1986cited by this paper
• ROLE OF THE SARCOPLASMIC RETICULUM IN GLYCOGEN METABOLISM

  1972cited by this paper
• MITOCHONDRIAL AGGREGATES IN MUSCLE DISEASE

  1964cited by this paper
• Histochemistry, theoretical and applied

  1961cited by this paper
• BIOINFORMATICS ORIGINAL PAPER

  year unknowncited by this paper

• Exacerbated Skeletal Muscle Phenotype in Mice with ‘Homotypic’ Expression of the Tubular Aggregate Myopathy ORAI1 G100S Mutation

  2026cites this paper
• Estrogens and Antioxidants Prevent the Formation of Tubular Aggregates in Aging Male Mice

  2025cites this paper
• The spectrum of neuromuscular diseases with tubular aggregates.

  2025cites this paper
• Voluntary Wheel Running Mitigates Disease in an Orai1 Gain-of-Function Mouse Model of Tubular Aggregate Myopathy

  2025cites this paper
• An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease

  2024cites this paper
• Synthetic Biology Meets Ca2+ Release-Activated Ca2+ Channel-Dependent Immunomodulation

  2024cites this paper
• The D84G mutation in STIM1 causes nuclear envelope dysfunction and myopathy in mice

  2024cites this paper
• A Deep Dive into the N-Terminus of STIM Proteins: Structure–Function Analysis and Evolutionary Significance of the Functional Domains

  2024cites this paper
• BCL2L13 at endoplasmic reticulum-mitochondria contact sites regulates calcium homeostasis to maintain skeletal muscle function

  2024cites this paper
• ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome

  2024cites this paper
• Antioxidants restore store‐operated Ca2+ entry in patient‐iPSC‐derived myotubes with tubular aggregate myopathy‐associated Ile484ArgfsX21 STIM1 mutation via upregulation of binding immunoglobulin protein

  2023cites this paper
• The Ca2+ Sensor STIM in Human Diseases

  2023cites this paper
• A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome–causing R304W mutation

  2023cites this paper
• The D84G mutation in STIM1 causes nuclear envelope dysfunction and myopathy in mice

  2023cites this paper
• Medication adherence in Fabry patients treated with migalastat: Real world experience

  2023cites this paper
• Voluntary wheel running mitigates disease in an Orai1 gain-of-function mouse model of tubular aggregate myopathy

  2023cites this paper
• CIC-39Na reverses the thrombocytopenia that characterizes tubular aggregate myopathy

  2022cites this paper
• Hereditary myopathies associated with hematological abnormalities

  2022cites this paper
• Stormorken syndrome caused by STIM1 mutation: A case report and literature review

  2022cites this paper
• Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy

  2021cites this paper
• Alteration of STIM1/Orai1-Mediated SOCE in Skeletal Muscle: Impact in Genetic Muscle Diseases and Beyond

  2021cites this paper
• Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report

  2021cites this paper
• Expanding the clinical and genetic spectrum of pathogenic variants in STIM1

  2021cites this paper
• Intertwined and Finely Balanced: Endoplasmic Reticulum Morphology, Dynamics, Function, and Diseases

  2021cites this paper
• Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy

  2021cites this paper
• SOCE in the cardiomyocyte: the secret is in the chambers

  2021cites this paper
• Molecular Choreography and Structure of Ca2+ Release-Activated Ca2+ (CRAC) and KCa2+ Channels and Their Relevance in Disease with Special Focus on Cancer

  2020cites this paper
• Calcium Signaling

  2020cites this paper
• Ion Channel Disorders

  2020cites this paper
• Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

  2020cites this paper
• Review: Structure and Activation Mechanisms of CRAC Channels.

  2020cites this paper
• STIM1 Gene

  2020cites this paper
• Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation.

  2020cites this paper
• STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases

  2020cites this paper
• The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis

  2020cites this paper
• Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome

  2019cites this paper
• Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies

  2019cites this paper
• Human Mutation

  2019cites this paper
• SOCE and STIM1 signaling in the heart: Timing and location matter.

  2019cites this paper
• STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.

  2019cites this paper
• Structural and Mechanistic Insights of CRAC Channel as a Drug Target in Autoimmune Disorder.

  2019cites this paper
• Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome.

  2018cites this paper
• ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain

  2018cites this paper
• Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease.

  2018cites this paper
• Disturbed Ca2+ Homeostasis in Muscle-Wasting Disorders.

  2018cites this paper
• [Tubular aggregate myopathy and Stormorken syndrome].

  2018cites this paper
• Biophysical properties of the ORAI1 channel in the context of tubular aggregate myopathy

  2018influential citation
• Myopathology

  2018cites this paper
• STIM1 over-activation generates a multi-systemic phenotype affecting skeletal muscle, spleen, eye, skin, bones, and the immune system in mice

  2018cites this paper
• Store-Operated Calcium Entry Mediated by ORAI and STIM.

  2018cites this paper
• Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature

  2018cites this paper
• Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

  2017cites this paper
• ORAI channels are critical for receptor-mediated endocytosis of albumin

  2017cites this paper
• Myopathology in congenital myopathies

  2017cites this paper
• ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

  2017influential citation
• Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

  2017cites this paper
• The role of STIM1 and SOCE in smooth muscle contractility.

  2017cites this paper
• Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1

  2016cites this paper
• eview a 2 + handling abnormalities in early-onset muscle diseases : Novel oncepts and perspectives

  2016cites this paper
• handling abnormalities in early-onset muscle diseases: novel concepts and perspectives

  2016cites this paper
• Genetic Investigations of Sporadic Inclusion Body Myositis and Myopathies with Structural Abnormalities and Protein Aggregates in Muscle

  2016cites this paper
• New concepts in congenital/early-onset muscle diseases: novelties and perspectives in Ca 2+ handling abnormalities

  2016cites this paper
• Calcium Dyshomeostasis in Tubular Aggregate Myopathy

  2016cites this paper
• York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

  2015cites this paper
• Stormorken syndrome or York platelet syndrome: A clinician's dilemma

  2015cites this paper
• Insights into the Regulation of Store-operated Calcium Entry

  2015cites this paper
• Diseases caused by mutations in ORAI1 and STIM1

  2015cites this paper
• 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.

  2015influential citation
• Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

  2015cites this paper
• Store-operated calcium entry: Mechanisms and modulation.

  2015cites this paper
• The Challenge of Next Generation Sequencing in the Context of Neuromuscular Diseases

  2014cites this paper
• Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

  2014cites this paper