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

[1]  S. Schiaffino.  Tubular aggregates in skeletal muscle: Just a special type of protein aggregates? , 2012, Neuromuscular Disorders.

[2]  S. Boncompagni,et al.  Sequential stages in the age-dependent gradual formation and accumulation of tubular aggregates in fast twitch muscle fibers: SERCA and calsequestrin involvement , 2012, AGE.

[3]  L. Missiaen,et al.  STIM1 as a key regulator for Ca2+ homeostasis in skeletal-muscle development and function , 2011, Skeletal Muscle.

[4]  J. Putney.  Pharmacology of store-operated calcium channels. , 2010, Molecular interventions.

[5]  F. von Wegner,et al.  Upregulation of store-operated Ca2+ entry in dystrophic mdx mouse muscle. , 2010, American journal of physiology. Cell physiology.

[6]  A. Fischer,et al.  ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. , 2009, The Journal of allergy and clinical immunology.

[7]  B. Aronow,et al.  Calcium influx is sufficient to induce muscular dystrophy through a TRPC-dependent mechanism , 2009, Proceedings of the National Academy of Sciences.

[8]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[9]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[10]  F. Rieux-Laucat,et al.  STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. , 2009, The New England journal of medicine.

[11]  Elizabeth D. Covington,et al.  STIM1 Clusters and Activates CRAC Channels via Direct Binding of a Cytosolic Domain to Orai1 , 2009, Cell.

[12]  N. Andrews,et al.  Two-way traffic on the road to plasma membrane repair. , 2008, Trends in cell biology.

[13]  M. Ikura,et al.  Structural and Mechanistic Insights into STIM1-Mediated Initiation of Store-Operated Calcium Entry , 2008, Cell.

[14]  J. Eu,et al.  STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle , 2008, Nature Cell Biology.

[15]  J. Putney,et al.  Ca2+-store-dependent and -independent reversal of Stim1 localization and function , 2008, Journal of Cell Science.

[16]  M. Nehls,et al.  An EF hand mutation in Stim1 causes premature platelet activation and bleeding in mice. , 2007, The Journal of clinical investigation.

[17]  Tao Xu,et al.  Mapping the Interacting Domains of STIM1 and Orai1 in Ca2+ Release-activated Ca2+ Channel Activation* , 2007, Journal of Biological Chemistry.

[18]  M. Ikura,et al.  Stored Ca2+ Depletion-induced Oligomerization of Stromal Interaction Molecule 1 (STIM1) via the EF-SAM Region , 2006, Journal of Biological Chemistry.

[19]  O. Dorchies,et al.  Ca2+-independent phospholipase A2 enhances store-operated Ca2+ entry in dystrophic skeletal muscle fibers , 2006, Journal of Cell Science.

[20]  JoAnn Buchanan,et al.  The elementary unit of store-operated Ca2+ entry: local activation of CRAC channels by STIM1 at ER–plasma membrane junctions , 2006, The Journal of cell biology.

[21]  JoAnn Buchanan,et al.  Ca2+ store depletion causes STIM1 to accumulate in ER regions closely associated with the plasma membrane , 2006, The Journal of cell biology.

[22]  Rebecca R. Boyles,et al.  Large Store-operated Calcium Selective Currents Due to Co-expression of Orai1 or Orai2 with the Intracellular Calcium Sensor, Stim1* , 2006, Journal of Biological Chemistry.

[23]  Bogdan Tanasa,et al.  A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function , 2006, Nature.

[24]  B. Eymard,et al.  The origin of tubular aggregates in human myopathies , 2005, The Journal of pathology.

[25]  T. Deerinck,et al.  STIM1 is a Ca2+ sensor that activates CRAC channels and migrates from the Ca2+ store to the plasma membrane , 2005, Nature.

[26]  Tobias Meyer,et al.  STIM Is a Ca2+ Sensor Essential for Ca2+-Store-Depletion-Triggered Ca2+ Influx , 2005, Current Biology.

[27]  Steven Henikoff,et al.  SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..

[28]  P. Bork,et al.  Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.

[29]  A. Brunn,et al.  Dominantly inherited myopathy with novel tubular aggregates containing 1–21 tubulofilamentous structures , 2001, Acta Neuropathologica.

[30]  A. Engel,et al.  A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine‐induced ion channel , 1982, Annals of neurology.

[31]  W. Engel,et al.  Tubular aggregates in type II muscle fibers: ultrastructural and histochemical correlation. , 1970, Journal of ultrastructure research.