ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy
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Title
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 38, Issue 4, Pages 426-438
Publisher
Wiley
Online
2017-01-06
DOI
10.1002/humu.23172
References
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Note: Only part of the references are listed.- The Orai1 Store-operated Calcium Channel Functions as a Hexamer
- (2016) Xiangyu Cai et al. JOURNAL OF BIOLOGICAL CHEMISTRY
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- (2015) Thomas Markello et al. MOLECULAR GENETICS AND METABOLISM
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- (2015) Maggie C. Walter et al. NEUROMUSCULAR DISORDERS
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- (2015) I. Frischauf et al. Science Signaling
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- (2015) I. Frischauf et al. Science Signaling
- 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
- 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
- Differential Roles of the C and N Termini of Orai1 Protein in Interacting with Stromal Interaction Molecule 1 (STIM1) for Ca2+Release-activated Ca2+(CRAC) Channel Activation
- (2013) Hongying Zheng et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- How Many Orai's Does It Take to Make a CRAC Channel?
- (2013) Jill L. Thompson et al. Scientific Reports
- 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
- Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency
- (2011) S. Fuchs et al. JOURNAL OF IMMUNOLOGY
- 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
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- (2010) Minji Byun et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Expression and association of TRPC subtypes with Orai1 and STIM1 in human parathyroid
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- 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
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- STIM1 Clusters and Activates CRAC Channels via Direct Binding of a Cytosolic Domain to Orai1
- (2009) Chan Young Park et al. CELL
- 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
- STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity
- (2009) Capucine Picard et al. NEW ENGLAND JOURNAL OF MEDICINE
- Dynamic Coupling of the Putative Coiled-coil Domain of ORAI1 with STIM1 Mediates ORAI1 Channel Activation
- (2008) Martin Muik et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- STIM1-Orai1 interactions and Orai1 conformational changes revealed by live-cell FRET microscopy
- (2008) Laura Navarro-Borelly et al. JOURNAL OF PHYSIOLOGY-LONDON
- STIM2 protein mediates distinct store-dependent and store-independent modes of CRAC channel activation
- (2007) Suhel Parvez et al. FASEB JOURNAL
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