Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation
出版年份 2019 全文链接
标题
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation
作者
关键词
-
出版物
HUMAN MUTATION
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2019-08-26
DOI
10.1002/humu.23899
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome
- (2018) A. Alonso-Jiménez et al. EUROPEAN JOURNAL OF NEUROLOGY
- 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
- 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
- ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain
- (2018) M. Bulla et al. JOURNAL OF PHYSIOLOGY-LONDON
- 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
- 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
- ORAI1 mutations abolishing store-operated Ca 2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency
- (2017) Jayson Lian et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
- (2017) Jean-Baptiste Noury et al. NEUROMUSCULAR DISORDERS
- Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
- (2017) Elizabeth Harris et al. NEUROMUSCULAR DISORDERS
- A novel gain-of-function mutation inORAI1causes late-onset tubular aggregate myopathy and congenital miosis
- (2016) M. Garibaldi et al. CLINICAL GENETICS
- Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1
- (2016) Yousef R. Badran et al. CLINICAL IMMUNOLOGY
- The Orai1 Store-operated Calcium Channel Functions as a Hexamer
- (2016) Xiangyu Cai 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
- Molecular Biophysics of Orai Store-Operated Ca2+ Channels
- (2015) Anna Amcheslavsky et al. BIOPHYSICAL JOURNAL
- A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency
- (2015) Heidi Schaballie et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function
- (2015) Janet Chou et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Cooperative Binding of Stromal Interaction Molecule 1 (STIM1) to the N and C Termini of Calcium Release-activated Calcium Modulator 1 (Orai1)
- (2015) Raz Palty et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Alternative splicing converts STIM2 from an activator to an inhibitor of store-operated calcium channels
- (2015) Anshul Rana et al. JOURNAL OF CELL BIOLOGY
- York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
- (2015) Thomas Markello et al. MOLECULAR GENETICS AND METABOLISM
- Proteomic mapping of ER–PM junctions identifies STIMATE as a regulator of Ca2+ influx
- (2015) Ji Jing et al. NATURE CELL BIOLOGY
- 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation
- (2015) Maggie C. Walter et al. NEUROMUSCULAR DISORDERS
- A calcium-accumulating region, CAR, in the channel Orai1 enhances Ca2+ permeation and SOCE-induced gene transcription
- (2015) I. Frischauf et al. Science Signaling
- A STIM2 splice variant negatively regulates store-operated calcium entry
- (2015) Anna-Maria Miederer et al. Nature Communications
- Retrograde regulation of STIM1-Orai1 interaction and store-operated Ca2+ entry by calsequestrin
- (2015) Limin Wang et al. Scientific Reports
- A calcium-accumulating region, CAR, in the channel Orai1 enhances Ca2+ permeation and SOCE-induced gene transcription
- (2015) I. Frischauf et al. Science Signaling
- Regulation of endogenous and heterologous Ca2+ release-activated Ca2+ currents by pH
- (2014) Andreas Beck et al. CELL CALCIUM
- 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
- 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
- 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
- Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy
- (2013) Johann Böhm et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The STIM1 CTID domain determines access of SARAF to SOAR to regulate Orai1 channel function
- (2013) Archana Jha et al. JOURNAL OF CELL BIOLOGY
- Initial activation of STIM1, the regulator of store-operated calcium entry
- (2013) Yubin Zhou et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates
- (2012) Katsiaryna Belaya et al. AMERICAN JOURNAL OF HUMAN GENETICS
- SARAF Inactivates the Store Operated Calcium Entry Machinery to Prevent Excess Calcium Refilling
- (2012) Raz Palty et al. CELL
- ORMDL3 modulates store-operated calcium entry and lymphocyte activation
- (2012) Amado Carreras-Sureda et al. HUMAN MOLECULAR GENETICS
- Alternative translation initiation gives rise to two isoforms of Orai1 with distinct plasma membrane mobilities
- (2012) M. Fukushima et al. JOURNAL OF CELL SCIENCE
- Gated regulation of CRAC channel ion selectivity by STIM1
- (2012) Beth A. McNally et al. NATURE
- STIM proteins: dynamic calcium signal transducers
- (2012) Jonathan Soboloff et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- When tubules aggregate
- (2012) Hans H. Goebel NEUROMUSCULAR DISORDERS
- 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
- Crystal Structure of the Calcium Release-Activated Calcium Channel Orai
- (2012) X. Hou et al. SCIENCE
- Sequential stages in the age-dependent gradual formation and accumulation of tubular aggregates in fast twitch muscle fibers: SERCA and calsequestrin involvement
- (2011) Simona Boncompagni et al. AGE
- STIM1 couples to ORAI1 via an intramolecular transition into an extended conformation
- (2011) Martin Muik et al. EMBO JOURNAL
- 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
- Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
- (2011) Velina Guergueltcheva et al. JOURNAL OF NEUROLOGY
- Tubular aggregates in skeletal muscle: Just a special type of protein aggregates?
- (2011) Stefano Schiaffino NEUROMUSCULAR DISORDERS
- Fiber Types in Mammalian Skeletal Muscles
- (2011) Stefano Schiaffino et al. PHYSIOLOGICAL REVIEWS
- Mutations in Orai1 transmembrane segment 1 cause STIM1-independent activation of Orai1 channels at glycine 98 and channel closure at arginine 91
- (2011) S. L. Zhang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Evidence for an interaction between Golli and STIM1 in store-operated calcium entry
- (2010) Ciara M. Walsh et al. BIOCHEMICAL JOURNAL
- Ultra-rapid activation and deactivation of store-operated Ca2+ entry in skeletal muscle
- (2010) Joshua N. Edwards et al. CELL CALCIUM
- 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
- A novel EF-hand protein, CRACR2A, is a cytosolic Ca2+ sensor that stabilizes CRAC channels in T cells
- (2010) Sonal Srikanth et al. NATURE CELL BIOLOGY
- Pore architecture of the ORAI1 store-operated calcium channel
- (2010) Y. Zhou et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Differential Redox Regulation of ORAI Ion Channels: A Mechanism to Tune Cellular Calcium Signaling
- (2010) I. Bogeski et al. Science Signaling
- A minimal regulatory domain in the C terminus of STIM1 binds to and activates ORAI1 CRAC channels
- (2009) Takumi Kawasaki et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- STIM1 Clusters and Activates CRAC Channels via Direct Binding of a Cytosolic Domain to Orai1
- (2009) Chan Young Park et al. CELL
- The molecular physiology of CRAC channels
- (2009) Murali Prakriya IMMUNOLOGICAL REVIEWS
- ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia
- (2009) Christie-Ann McCarl et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- A Ca2+Release-activated Ca2+(CRAC) Modulatory Domain (CMD) within STIM1 Mediates Fast Ca2+-dependent Inactivation of ORAI1 Channels
- (2009) Isabella Derler et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The Short N-terminal Domains of STIM1 and STIM2 Control the Activation Kinetics of Orai1 Channels
- (2009) Yandong Zhou et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Rapid Ca2+flux through the transverse tubular membrane, activated by individual action potentials in mammalian skeletal muscle
- (2009) Bradley S. Launikonis et al. JOURNAL OF PHYSIOLOGY-LONDON
- The molecular architecture of the arachidonate-regulated Ca2+-selective ARC channel is a pentameric assembly of Orai1 and Orai3 subunits
- (2009) Olivier Mignen et al. JOURNAL OF PHYSIOLOGY-LONDON
- 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
- Stromal Interaction Molecule (STIM) 1 and STIM2 Calcium Sensing Regions Exhibit Distinct Unfolding and Oligomerization Kinetics
- (2008) Peter B. Stathopulos 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
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