calsequestrin

Summary

Gene Symbol: calsequestrin
Description: calsequestrin 1 (fast-twitch, skeletal muscle)
Alias: CASQ, PDIB1, calmitin, calmitine, calsequestrin, skeletal muscle isoform, calsequestrin-1
Species: human

Top Publications

  1. ncbi Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish
    Mao Fu
    Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA
    Diabetes 53:3292-9. 2004
  2. pmc Accelerated activation of SOCE current in myotubes from two mouse models of anesthetic- and heat-induced sudden death
    Viktor Yarotskyy
    Department of Physiology and Pharmacology, University of Rochester Medical Center, Rochester, New York, United States of America
    PLoS ONE 8:e77633. 2013
  3. doi Potential regulatory role of calsequestrin in platelet Ca(2+) homeostasis and its association with platelet hyperactivity in diabetes mellitus
    Z Zhu
    Department of Pharmacology, Capital Medical University, Beijing, China
    J Thromb Haemost 10:116-24. 2012
  4. pmc High-capacity Ca2+ binding of human skeletal calsequestrin
    Emiliano J Sanchez
    School of Molecular Biosciences, Washington State University, Pullman, Washington 99164, USA
    J Biol Chem 287:11592-601. 2012
  5. ncbi Calsquestrin 1 (CASQ1) gene polymorphisms under chromosome 1q21 linkage peak are associated with type 2 diabetes in Northern European Caucasians
    Swapan Kumar Das
    Department of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA
    Diabetes 53:3300-6. 2004
  6. ncbi Characterization and localization to human chromosome 1 of human fast-twitch skeletal muscle calsequestrin gene
    J Fujii
    Banting and Best Department of Medical Research, University of Toronto, Ontario, Canada
    Somat Cell Mol Genet 16:185-9. 1990
  7. ncbi Clinically active serologically quiescent systemic lupus erythematosus
    Dafna D Gladman
    University of Toronto Lupus Clinic, Centre for Prognosis Studies in the Rheumatic Diseases, Toronto Western Hospital, 399 Bathurst Street, EC 5 034, Toronto, Ontario, Canada M5T 2S8
    J Rheumatol 30:1960-2. 2003
  8. ncbi Linkage and radiation hybrid mapping of the porcine calsequestrin 1 (CASQ1 ) gene to chromosome 4q
    A Knoll
    Institute of Animal Physiology and Genetics, Academy of Sciences of the Czech Republic, 277 21 Libechov, Czech Republic
    Anim Genet 33:390-2. 2002
  9. pmc Dietary nitrate increases tetanic [Ca2+]i and contractile force in mouse fast-twitch muscle
    Andres Hernandez
    Department of Physiology and Pharmacology, Karolinska Institutet, SE 171 77 Stockholm, Sweden
    J Physiol 590:3575-83. 2012
  10. pmc Novel details of calsequestrin gel conformation in situ
    Stefano Perni
    From the Department of Cell Developmental Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6058 and
    J Biol Chem 288:31358-62. 2013

Scientific Experts

Detail Information

Publications77

  1. ncbi Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish
    Mao Fu
    Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA
    Diabetes 53:3292-9. 2004
    b>Calsequestrin (CASQ)1 is involved in intracellular storage and release of calcium, a process that has been shown to mediate glucose transport in muscle...
  2. pmc Accelerated activation of SOCE current in myotubes from two mouse models of anesthetic- and heat-induced sudden death
    Viktor Yarotskyy
    Department of Physiology and Pharmacology, University of Rochester Medical Center, Rochester, New York, United States of America
    PLoS ONE 8:e77633. 2013
    ..anesthetic- and heat-induced sudden death: 1) type 1 ryanodine receptor (RyR1) knock-in mice (Y524S/+) and 2) calsequestrin 1 and 2 double knock-out (dCasq-null) mice...
  3. doi Potential regulatory role of calsequestrin in platelet Ca(2+) homeostasis and its association with platelet hyperactivity in diabetes mellitus
    Z Zhu
    Department of Pharmacology, Capital Medical University, Beijing, China
    J Thromb Haemost 10:116-24. 2012
    Altered Ca(2+) homeostasis contributes significantly to platelet hyperactivity in diabetes mellitus. Calsequestrin (CSQ), as a Ca(2+) buffer protein in the sarcoplasmic reticulum, also regulates the Ca(2+) release process in muscles...
  4. pmc High-capacity Ca2+ binding of human skeletal calsequestrin
    Emiliano J Sanchez
    School of Molecular Biosciences, Washington State University, Pullman, Washington 99164, USA
    J Biol Chem 287:11592-601. 2012
    b>Calsequestrin, the major calcium storage protein in both cardiac and skeletal muscle, binds large amounts of Ca(2+) in the sarcoplasmic reticulum and releases them during muscle contraction...
  5. ncbi Calsquestrin 1 (CASQ1) gene polymorphisms under chromosome 1q21 linkage peak are associated with type 2 diabetes in Northern European Caucasians
    Swapan Kumar Das
    Department of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA
    Diabetes 53:3300-6. 2004
    ..We identified two SNPs that showed strong associations, and both mapped to within intron 2 of the calsequestrin 1 (CASQ1) gene...
  6. ncbi Characterization and localization to human chromosome 1 of human fast-twitch skeletal muscle calsequestrin gene
    J Fujii
    Banting and Best Department of Medical Research, University of Toronto, Ontario, Canada
    Somat Cell Mol Genet 16:185-9. 1990
    A genomic clone encoding human fast-twitch skeletal muscle calsequestrin was isolated, and the amino acid sequence of the protein and the exon-intron boundaries of the gene were deduced from its sequence...
  7. ncbi Clinically active serologically quiescent systemic lupus erythematosus
    Dafna D Gladman
    University of Toronto Lupus Clinic, Centre for Prognosis Studies in the Rheumatic Diseases, Toronto Western Hospital, 399 Bathurst Street, EC 5 034, Toronto, Ontario, Canada M5T 2S8
    J Rheumatol 30:1960-2. 2003
    To identify the frequency and characteristics of clinical activity with serological quiescence (CASQ) in a large cohort of patients with systemic lupus erythematosus (SLE) followed prospectively at a single center.
  8. ncbi Linkage and radiation hybrid mapping of the porcine calsequestrin 1 (CASQ1 ) gene to chromosome 4q
    A Knoll
    Institute of Animal Physiology and Genetics, Academy of Sciences of the Czech Republic, 277 21 Libechov, Czech Republic
    Anim Genet 33:390-2. 2002
  9. pmc Dietary nitrate increases tetanic [Ca2+]i and contractile force in mouse fast-twitch muscle
    Andres Hernandez
    Department of Physiology and Pharmacology, Karolinska Institutet, SE 171 77 Stockholm, Sweden
    J Physiol 590:3575-83. 2012
    ..changes in nitrate treated mice were accompanied by increased expression of the Ca(2+) handling proteins calsequestrin 1 and the dihydropyridine receptor...
  10. pmc Novel details of calsequestrin gel conformation in situ
    Stefano Perni
    From the Department of Cell Developmental Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6058 and
    J Biol Chem 288:31358-62. 2013
    b>Calsequestrin (CASQ) is the major component of the sarcoplasmic reticulum (SR) lumen in skeletal and cardiac muscles...
  11. doi Both short intense and prolonged moderate in vitro stimulation reduce the mRNA expression of calcium-regulatory proteins in rat skeletal muscle
    Satu Mänttäri
    Department of Biology, University of Oulu, P O Box 3000, 90014 Oulu, Finland
    Mol Cell Biochem 373:171-8. 2013
    ..The mRNA level of Ca(2+)-ATPase (SERCA1, 2), calsequestrin (CASQ1, 2), ryanodine receptor (RyR1), and dihydropyridine receptor (Cacna1) was assessed in rat extensor ..
  12. pmc Dynamic measurement of the calcium buffering properties of the sarcoplasmic reticulum in mouse skeletal muscle
    Carlo Manno
    Section of Cellular Signaling Department of Molecular Biophysics and Physiology, Rush University School of Medicine, 1750 W Harrison St, Chicago, IL 60612, USA
    J Physiol 591:423-42. 2013
    ..6). The difference suggests that 75% of the releasable calcium is normally bound to calsequestrin. In the nulls the difference in B between ON and OFF was less than in the WT but still significant...
  13. pmc Molecular mechanisms of pharmaceutical drug binding into calsequestrin
    Arun K Subra
    Department of Chemistry, Washington State University, Pullman, WA 99164 4630, USA
    Int J Mol Sci 13:14326-43. 2012
    b>Calsequestrin (CASQ) is a major Ca2+-storage/buffer protein present in the sarcoplasmic reticulum of both skeletal (CASQ1) and cardiac (CASQ2) muscles...
  14. ncbi Skeletal muscle of patients with Duchenne's muscular dystrophy: evidence of a mitochondrial proteolytic factor responsible for calmitine deficiency
    B Lucas-Heron
    Groupe de Recherche sur les Myopathies, Laboratoire de Physiologie, U E R de Médecine, Nantes, France
    Biochem Biophys Res Commun 223:31-5. 1996
    ..of mitochondrial extracts of skeletal muscle obtained from patients with Duchenne's muscular dystrophy (DMD) on calmitine of the mitochondrial matrix isolated from skeletal muscle of control mice...
  15. ncbi CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population
    Natalia Kraeva
    Malignant Hyperthermia Investigation Unit, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada
    Anesthesiology 118:344-9. 2013
    ..Studies of CASQ1-null mice have shown that CASQ1, encoding calsequestrin 1, the major Ca2+ binding protein in the lumen of the sarcoplasmic reticulum, is a candidate gene for MH in ..
  16. pmc Mechanism of calsequestrin regulation of single cardiac ryanodine receptor in normal and pathological conditions
    Haiyan Chen
    Department of Molecular Physiology and Biophysics, Rush University Medical Center, Chicago, IL 60612, USA
    J Gen Physiol 142:127-36. 2013
    ..release through mechanisms localized inside the SR; one of these involves luminal Ca(2+) interacting with calsequestrin (CASQ), triadin, and/or junctin to regulate RyR2 function...
  17. doi Differential expression of calcium-regulating genes in heat-stressed turkey breast muscle is associated with meat quality
    K R B Sporer
    Department of Food Science and Human Nutrition, Michigan State University, East Lansing, 48824, USA
    Poult Sci 91:1418-24. 2012
    ..sarco/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1), and the sarcoplasmic reticulum, Ca(2+)-storage protein calsequestrin (CASQ1)...
  18. pmc Glycosylation of skeletal calsequestrin: implications for its function
    Emiliano J Sanchez
    School of Molecular Biosciences, Washington State University, Pullman, Washington 99164 4660, USA
    J Biol Chem 287:3042-50. 2012
    b>Calsequestrin (CASQ) serves as a major Ca(2+) storage/buffer protein in the sarcoplasmic reticulum (SR). When purified from skeletal muscle, CASQ1 is obtained in its glycosylated form...
  19. doi Development and testing of a cancer appetite and symptom questionnaire
    V Halliday
    Division of Nutritional Sciences, School of Biosciences, University of Nottingham, Nottingham, UK
    J Hum Nutr Diet 25:217-24. 2012
    ..The present study aimed to build on the CNAQ to develop a cancer appetite and symptom questionnaire (CASQ) for predicting weight loss in patients with cancer.
  20. pmc Triadin/Junctin double null mouse reveals a differential role for Triadin and Junctin in anchoring CASQ to the jSR and regulating Ca(2+) homeostasis
    Simona Boncompagni
    DNI Department of Neuroscience and Imaging, CeSI Center for Research on Ageing, University of G d Annunzio, Chieti, Italy
    PLoS ONE 7:e39962. 2012
    ..related transmembrane proteins thought to be key mediators of structural and functional interactions between calsequestrin (CASQ) and ryanodine receptor (RyRs) at the junctional sarcoplasmic reticulum (jSR)...
  21. doi Calsequestrin (CASQ1) rescues function and structure of calcium release units in skeletal muscles of CASQ1-null mice
    Mirta Tomasi
    Dept of Experimental Biomedical Sciences, Univ of Padova, Italy
    Am J Physiol Cell Physiol 302:C575-86. 2012
    ..units, and molecular composition of sarcoplasmic reticulum (SR) are altered in fast-twitch skeletal muscles of calsequestrin-1 (CASQ1)-null mice...
  22. doi Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum
    David H MacLennan
    Banting and Best Department of Medical Research, University of Toronto, Charles H Best Institute, 112 College st Toronto, Ontario, Canada MSG 116
    Biochim Biophys Acta 1813:948-64. 2011
    ..ventricular tachycardia (CPVT), that resulted in the identification of the ryanodine receptor (RYR), calsequestrin (CASQ) and dihydropyridine receptor (CACNA1S) genes as sites of disease-causing mutations...
  23. doi Molecular and functional analyses of aspolin, a fish-specific protein extremely rich in aspartic acid
    Shigeharu Kinoshita
    Department of Aquatic Bioscience, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Yayoi 1 1 1, Bunkyo, Tokyo, 113 8657, Japan
    Mar Biotechnol (NY) 13:517-26. 2011
    ..Injection of antisense morpholino oligo targeting both aspolins 1 and 2 increased the mRNA levels of calsequestrin 1, another calcium binding protein in SR...
  24. pmc Increased store-operated Ca2+ entry in skeletal muscle with reduced calsequestrin-1 expression
    Xiaoli Zhao
    Department of Physiology and Biophysics, Robert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, Piscataway, New Jersey, USA
    Biophys J 99:1556-64. 2010
    ..Previously we showed that calsequestrin-1 (CSQ1) participated in retrograde regulation of SOCE in cultured skeletal myotubes...
  25. pmc Paradoxical buffering of calcium by calsequestrin demonstrated for the calcium store of skeletal muscle
    Leandro Royer
    Section of Cellular Signaling, Department of Molecular Biophysics and Physiology, Rush University, Chicago, IL 60612, USA
    J Gen Physiol 136:325-38. 2010
    ..requires a Ca(2+) reservoir of large capacity inside the sarcoplasmic reticulum (SR), presumably the protein calsequestrin. The buffering power of calsequestrin in vitro has a paradoxical dependence on [Ca(2+)] that should be ..
  26. ncbi Exertional Rhabdomyolysis and Malignant Hyperthermia in a Patient with Ryanodine Receptor Type 1 Gene, L-type Calcium Channel alpha-1 Subunit Gene, and Calsequestrin-1 Gene Polymorphisms
    John F Capacchione
    Assistant Professor, section sign Professor, Department of Anesthesiology, Department of Neurosurgery, National Naval Medical Center, Bethesda, Department of Surgery, Walter Reed Army Medical Center, Washington, D C
    Anesthesiology 112:239-44. 2010
  27. doi Potential adverse interaction of human cardiac calsequestrin
    Chulhee Kang
    School of Molecular Biosciences, Washington State University, Pullman, WA 99164 4660, USA
    Eur J Pharmacol 646:12-21. 2010
    b>Calsequestrin (CASQ) is a major Ca(2+) storage protein within the sarcoplasmic reticulum (SR) of both cardiac and skeletal muscles...
  28. doi Epitopes, immunoglobulin classes and immunoglobulin G subclasses of calsequestrin antibodies in patients with thyroid eye disease
    Sofie de Haan
    Department of Medicine, Nepean Hospital, University of Sydney, Penrith, NSW, 2751, Australia
    Autoimmunity 43:698-703. 2010
    ..are associated with thyroid eye disease (TED), including those reactive against the calcium binding protein calsequestrin (CASQ)...
  29. ncbi Pathogenesis of thyroid eye disease--does autoimmunity against the TSH receptor explain all cases?
    Jack R Wall
    Department of Medicine, University of Sydney, Australia
    Endokrynol Pol 61:222-7. 2010
    ..other eye muscle and orbital connective tissue (OCT) antigens, in particular the calcium binding protein calsequestrin (CASQ1) and the orbital fibroblast membrane antigen collagen XIII...
  30. doi The cardiac calsequestrin gene (CASQ2) is up-regulated in the thyroid in patients with Graves' ophthalmopathy--support for a role of autoimmunity against calsequestrin as the triggering event
    Leon Wescombe
    Department of Medicine, Nepean Clinical School, The University of Sydney, Penrith, NSW, Australia
    Clin Endocrinol (Oxf) 73:522-8. 2010
    ..The aim of this study was to identify differentially expressed genes within the thyroid of patients with GO and GH as a possible explanation for a thyroid initiated orbital autoimmunity...
  31. doi Duplication of calsequestrin genes in teleosts: molecular characterization in the Senegalese sole (Solea senegalensis)
    Carlos Infante
    IFAPA Centro El Toruño, 11500 El Puerto de Santa María Cádiz, Spain
    Comp Biochem Physiol B Biochem Mol Biol 158:304-14. 2011
    b>Calsequestrin is a moderate-affinity, high-capacity Ca(2+) binding protein in the sarcoplasmic reticulum of skeletal and cardiac muscle that seems to act as an intralumenal Ca(2+) buffer...
  32. doi Probing cationic selectivity of cardiac calsequestrin and its CPVT mutants
    Naresh C Bal
    Department of Physiology and Cell Biology, The Ohio State University College of Medicine, Columbus, OH 43210, USA
    Biochem J 435:391-9. 2011
    CASQ (calsequestrin) is a Ca2+-buffering protein localized in the muscle SR (sarcoplasmic reticulum); however, it is unknown whether Ca2+ binding to CASQ2 is due to its location inside the SR rich in Ca2+ or due to its preference for Ca2+..
  33. pmc Sequential stages in the age-dependent gradual formation and accumulation of tubular aggregates in fast twitch muscle fibers: SERCA and calsequestrin involvement
    Simona Boncompagni
    IIM Interuniversitary Institute of Myology, DNI Department of Neuroscience and Imaging, CeSI Centro Scienze dell Invecchiamento, Universita degli Studi G D Annunzio, 66013, Chieti, Italy
    Age (Dordr) 34:27-41. 2012
    ..Initially (before 1 year of age), the SR Ca(2+) binding protein calsequestrin (CASQ) accumulates specifically at the I band level causing swelling of free SR cisternae...
  34. ncbi Structure and expression of Strabismus 1 gene on human chromosome 1q21-q23
    Masaru Katoh
    Genetics and Cell Biology Section, Genetics Division, National Cancer Center Research Institute, Tsukiji 5 chome, Chuo Ku, Tokyo 104 0045, Japan
    Int J Oncol 20:1197-203. 2002
    ..Loss-of-function mutation of STB1 gene might lead to carcinogenesis through activation of the WNT - beta-catenin signaling pathway...
  35. pmc Mice null for calsequestrin 1 exhibit deficits in functional performance and sarcoplasmic reticulum calcium handling
    Rotimi O Olojo
    Department of Biochemistry, University of Maryland School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 6:e27036. 2011
    ..Much attention has been focused on calsequestrin (CASQ1) and its role in SR Ca(2+) buffering as well as its potential for modulating RyR1, the L-type Ca(2+) ..
  36. doi Lessons from calsequestrin-1 ablation in vivo: much more than a Ca(2+) buffer after all
    Feliciano Protasi
    CeSI Center for Research on Ageing and DNI Department of Neuroscience and Imaging, University Gabriele d Annunzioof Chieti, Via Colle dell Ara, 66100 Chieti, Italy
    J Muscle Res Cell Motil 32:257-70. 2011
    b>Calsequestrin type-1 (CASQ1), the main sarcoplasmic reticulum (SR) Ca(2+) binding protein, plays a dual role in skeletal fibers: a) it provides a large pool of rapidly-releasable Ca(2+) during excitation-contraction (EC) coupling; and b) ..
  37. ncbi [Pathogenesis of thyroid eye disease - does autoimmunity against the TSH receptor explain all cases?]
    Jack R Wall
    Department of Medicine, University of Sydney, Australia
    Endokrynol Pol 62:1-7. 2011
    ..other eye muscle and orbital connective tissue (OCT) antigens, in particular the calcium binding protein calsequestrin (CASQ1) and the orbital fibroblast membrane antigen collagen XIII...
  38. pmc Measurement of RyR permeability reveals a role of calsequestrin in termination of SR Ca(2+) release in skeletal muscle
    Monika Sztretye
    Section of Cellular Signaling, Department of Molecular Biophysics and Physiology, Rush University, Chicago, IL 60612, USA
    J Gen Physiol 138:231-47. 2011
    ..In cells of mice null for Casq1, permeability did not decrease in the same way, indicating that calsequestrin (Casq) is essential in the mechanism of channel closure and termination of Ca(2+) release...
  39. pmc D4cpv-calsequestrin: a sensitive ratiometric biosensor accurately targeted to the calcium store of skeletal muscle
    Monika Sztretye
    Section of Cellular Signaling, Department of Molecular Biophysics and Physiology, Rush University, Chicago, IL 60612, USA
    J Gen Physiol 138:211-29. 2011
    ..D4cpv was targeted to the SR by fusion with the cDNA of calsequestrin 1 or a variant that binds less Ca(2+)...
  40. doi Phosphorylation of human calsequestrin: implications for calcium regulation
    Emiliano J Sanchez
    School of Molecular Biosciences, Washington State University, Pullman, WA 99164 4660, USA
    Mol Cell Biochem 353:195-204. 2011
    Both cardiac and skeletal calsequestrin (CASQ2 and CASQ1) serve as a major Ca(2+) storage/buffer protein in the sarcoplasmic reticulum (SR) by sequestering and releasing large numbers of Ca(2+) ions during each muscular contraction and ..
  41. pmc Couplons in rat atria form distinct subgroups defined by their molecular partners
    Meredith N Schulson
    Department of Cellular and Physiological Sciences, University of British Columbia, Life Sciences Institute, 2350 Health Sciences Mall, Vancouver, BC V6T 1Z3, Canada
    J Cell Sci 124:1167-74. 2011
    ..triple-labelled enzymatically isolated fixed myocytes to examine the distribution and colocalization of RyR2, calsequestrin (Casq), voltage-gated Ca(2+) channels (Ca(v)1.2), the sodium-calcium exchanger (Ncx) and caveolin-3 (Cav3)...
  42. pmc Differential effect of calsequestrin ablation on structure and function of fast and slow skeletal muscle fibers
    Cecilia Paolini
    CeSI Center for Research on Ageing and DNI Department of Neuroscience and Imaging, Università Gabriele d Annunzio of Chieti, 66100 Chieti, Italy
    J Biomed Biotechnol 2011:634075. 2011
    We compared structure and function of EDL and Soleus muscles in adult (4-6 m) mice lacking both Calsequestrin (CASQ) isoforms, the main SR Ca²⁺-binding proteins...
  43. ncbi Can autoimmunity against calsequestrin explain the eye and eyelid muscle inflammation of thyroid eye disease?
    Bamini Gopinath
    Department of Medicine, The University of Sydney, Nepean Clinical School, Penrith, NSW, Australia
    Orbit 28:256-61. 2009
    ..The main antigen appears to be the calcium binding protein calsequestrin. In this study we have tested for T lymphocyte sensitization to calsequestrin in patients with Graves' disease,..
  44. ncbi Spin exchange effects on the physicochemical properties of tetraoxolene-bridged bimetallic complexes
    Dong Guo
    Department of Chemistry, Michigan State University, East Lansing, Michigan 48824, USA
    Inorg Chem 46:3257-74. 2007
    ..chloranilate, have been prepared by two different routes from H2CA and H4CA starting materials; the corresponding (CAsq,cat)3- analogue was obtained by one-electron oxidation with decamethylferrocenium tetrafluoroborate...
  45. ncbi Reduced expression of Ca2+-regulating proteins in the upper gastrointestinal tract of patients with achalasia
    Harald Fischer
    Medizinische Klinik und Poliklinik B, Universitatsklinikum Munster, Germany
    World J Gastroenterol 12:6002-7. 2006
    ..To compare expression of Ca(2+)-regulating proteins in upper gastrointestinal (GI) tract of achalasia patients and healthy volunteers and to elucidate their role in achalasia...
  46. ncbi Exercise-induced ventricular arrhythmias in patients with no structural cardiac disease
    Melvin M Scheinman
    Department of Medicine, University of California San Francisco, San Francisco, California 94143, USA
    Annu Rev Med 57:473-84. 2006
    ..ventricular tachycardia due to abnormalities in either the ryanodine receptor 2 genes (RyR2) or the calsequestrin genes (CASQ)...
  47. pmc Mutational analysis of the ras converting enzyme reveals a requirement for glutamate and histidine residues
    Lisa J Plummer
    Department of Biochemistry and Molecular Biology, The University of Georgia, Athens, Georgia 30602, USA
    J Biol Chem 281:4596-605. 2006
    ..RCE orthologs have conserved substrate specificity, cleaving CVIA, CTLM, and certain other CAAX motifs, but not the CASQ motif, when these motifs are placed in the context of the yeast a-factor precursor...
  48. ncbi [A controlled randomized trial of the use of combined L-carnitine and acetyl-L-carnitine treatment in men with oligoasthenozoospermia]
    Zheng Li
    Department of Urology, Renji Hospital of Shanghai Second Medical Univesity, Shanghai 200001, China
    Zhonghua Nan Ke Xue 11:761-4. 2005
    ..To determine the efficacy and safety of combined L-carnitine and acetyl-L-carnitine therapy in infertile males with oligoasthenozoospermia...
  49. ncbi Psychometric evaluation of a measure of Beck's negative cognitive triad for youth: applications for African-American and Caucasian adolescents
    Leilani Greening
    University of Mississippi Medical Center, Jackson, MS 39216, USA
    Depress Anxiety 21:161-9. 2005
    ..the CTI-C, the Children's Depression Inventory (CDI) and the Children's Attributional Style Questionnaire-Revised (CASQ-R) on two occasions 4 months apart. The CTI-C was found to be internally consistent, Cronbach's alpha=...
  50. ncbi Maternal and child attributions in ADHD versus non-ADHD populations
    Brent R Collett
    Utah State University, USA
    J Atten Disord 7:187-96. 2004
    ..This study explores child and maternal attributions in ADHD and non-ADHD populations. Participants included children with ADHD (N = 26) and without ADHD (N = 24) and their mothers...
  51. ncbi Relationship of attributional style, depression, and posttrauma distress among children who suffered physical or sexual abuse
    Melissa K Runyon
    Center for Children s Support, University of Medicine and Dentistry of New Jersey School of Osteopathic Medicine, Stratford 08084, USA
    Child Maltreat 7:254-64. 2002
    ..the Post-Traumatic Stress Disorder-Reaction Index (PTSD-RI), and Children's Attributional Style Questionnaire (CASQ)...
  52. ncbi Strabismus (STB)/Vang-like (VANGL) gene family (Review)
    Masaru Katoh
    Genetics and Cell Biology Section, Genetics Division, National Cancer Center Research Institute, Chuo Ku, Tokyo 104 0045, Japan
    Int J Mol Med 10:11-5. 2002
    ..STB1 and STB2 might be suitable targets for tissue engineering in the field of re-generative medicine and for chemoprevention and treatment in the field of clinical oncology...
  53. ncbi Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23
    K Doudney
    Institute of Reproductive and Developmental Biology, Imperial College, Hammersmith Campus, Du Cane Road, London, W12 ONN, United Kingdom
    Genomics 72:180-92. 2001
    ..Together, the physical and transcript maps described here serve as resources for the identification of the Lp mutation and further define the conservation of this genomic region between mouse and human...
  54. ncbi Regional alterations in SR Ca(2+)-ATPase, phospholamban, and HSP-70 expression in chronic hibernating myocardium
    J A Fallavollita
    Department of Veterans Affairs, Western New York Health Care System, Buffalo, New York 14214, USA
    Am J Physiol 277:H1418-28. 1999
    ..06, P < 0.02) and SR Ca(2+)-ATPase (0.83 +/- 0.06 vs. 1.02 +/- 0.06, P < 0.05) with no change in calsequestrin (1.08 +/- 0.06 vs. 0.96 +/- 0.05, P = not significant)...
  55. ncbi A drug inhibits the mitochondrial protease inducing calmitine deficiency in skeletal muscle of patients with Duchenne's muscular dystrophy and dy/dy dystrophic mice
    B Lucas-Heron
    Groupe de Recherche sur les Myopathies, Laboratoire de Physiologie, UER de Medecine, Nantes, France
    Biochem Biophys Res Commun 232:559-61. 1997
    This study demonstrates that the cause of calmitine deficiency in dy/dy dystrophic mice and patients with Duchenne's muscular dystrophy (DMD) is the same; i.e., the absence of an inhibitor of calmitine-specific mitochondrial protease...
  56. ncbi Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes
    K Otsu
    Banting and Best Department of Medical Research, Charles H Best Institute, University of Toronto, Ontario, Canada
    Genomics 17:507-9. 1993
    ..1, the phospholamban gene (PLN) to 6q22.1, the human skeletal muscle calsequestrin gene (CASQ1) to band 1q21, the cardiac calsequestrin gene (CASQ2) to bands 1p11-p13...
  57. ncbi Mdx mouse skeletal muscle: could a mitochondrial factor be responsible for the absence of progressive necrosis?
    B Lucas-Heron
    Laboratoire de Physiologie, Faculte de Medecine, Nantes, France
    Neurosci Lett 169:97-100. 1994
    ..of gastrocnemius muscle in X-related muscular dystrophy (mdx) and control mice relative to changes in calmitine and calcium concentrations before and 3 and 6 days after a single injection of the drug...
  58. ncbi Molecular cloning of human calmitine, a mitochondrial calcium binding protein, reveals identity with calsequestrine
    N Bataille
    U 298 INSERM, CHR Angers, France
    Biochem Biophys Res Commun 203:1477-82. 1994
    The cDNA of a mitochondrial calcium binding protein, "calmitine", has been cloned from a human skeletal muscle cDNA library. One cDNA of 1.8 kb has been isolated and sequenced...
  59. pmc SERCA2a, phospholamban, sarcolipin, and ryanodine receptors gene expression in children with congenital heart defects
    Simona Vittorini
    Molecular Cardiology and Genetics Laboratory, Institute of Clinical Physiology, National Research Council, G Pasquinucci Hospital, Massa, Italy
    Mol Med 13:105-11. 2007
    ..The gene expression of target genes was assessed semiquantitatively by RT-PCR using the calsequestrin (CASQ, a housekeeping gene) RNA as internal standard in the atrial myocardium of 23 pediatric patients ..
  60. ncbi Pharmacological evidence for altered src kinase regulation of I (Ca,L) in patients with chronic atrial fibrillation
    Maura Greiser
    Institut fur Physiologie, Universitatsklinikum Aachen, Aachen, Germany
    Naunyn Schmiedebergs Arch Pharmacol 375:383-92. 2007
    ..Ca(2+) channel subunit were determined using Western blot analysis and normalized to the protein amounts of calsequestrin as internal control...
  61. pmc Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia
    Lei Song
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    J Clin Invest 117:1814-23. 2007
    ..ventricular tachycardia (CPVT) is a familial disorder caused by cardiac ryanodine receptor type 2 (RyR2) or calsequestrin 2 (CASQ2) gene mutations...
  62. doi Expression of calsequestrin in atrial and ventricular muscle of thermally acclimated rainbow trout
    Hanna Korajoki
    University of Joensuu, Faculty of Biosciences, Joensuu, Finland
    J Exp Biol 212:3403-14. 2009
    b>Calsequestrin (CASQ) is the main Ca(2+) binding protein within the sarcoplasmic reticulum (SR) of the vertebrate heart...
  63. pmc Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional/environmental heat stroke
    Feliciano Protasi
    Centro Scienze dell Invecchiamento, Department of Basic and Applied Medical Sciences, Interuniversity Institute of Myology, University G D Annunzio, Chieti, Italy
    J Physiol 587:3095-100. 2009
    ..In our laboratory we have recently characterized a novel knockout model lacking skeletal muscle calsequestrin (CASQ1), a SR Ca(2+)-binding protein that modulates RyR1 function, and investigated whether these mice present ..
  64. doi Expression of intracellular calcium signalling genes in cattle skin during tick infestation
    N Bagnall
    CSIRO Livestock Industries, Queensland Bioscience Precinct, St Lucia QLD, Australia
    Parasite Immunol 31:177-87. 2009
    ..The elevated expression in HR skin of specific Ca(2+) signalling genes such as AHNAK, CASQ, IL2, NFAT2CIP and PLCG1 may be related to host resistance...
  65. doi Control of muscle ryanodine receptor calcium release channels by proteins in the sarcoplasmic reticulum lumen
    Nicole A Beard
    John Curtin School of Medical Research, Australian National University, ACT, Australia
    Clin Exp Pharmacol Physiol 36:340-5. 2009
    ..Until recently, how calsequestrin communicated the store Ca(2+) load to the RyR remained unknown. 3. Calsequestrin 1 (skeletal calsequestrin) has been shown to both inhibit and activate the skeletal RyR1, dependent on whether ..
  66. pmc Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice
    Marco Dainese
    Ce S I Department of Basic and Applied Medical Sciences, Interuniversity Institute of Myology, University G D Annunzio, I 66013 Chieti, Italy
    FASEB J 23:1710-20. 2009
    b>Calsequestrin-1 (CASQ1) is a moderate-affinity, high-capacity Ca(2+)-binding protein in the sarcoplasmic reticulum (SR) terminal cisternae of skeletal muscle...
  67. doi Are genuine changes in protein expression being overlooked? Reassessing Western blotting
    Janelle P Mollica
    Department of Zoology, La Trobe University, Melbourne, VIC 3086, Australia
    Anal Biochem 386:270-5. 2009
    This study used purified calsequestrin 1 and AMP kinase (AMPK) proteins to demonstrate how Western blotting outcomes can be influenced when either the density of proteins detected lie within a nonproportional region of a standard curve ..
  68. doi Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathy
    Jan Aydin
    Present address Max Planck Institute for Biology of Ageing, Gleueler Str 50a, Cologne, Germany
    Hum Mol Genet 18:278-88. 2009
    ..sarcoplasmic reticulum (SR) Ca(2+) storage capacity in Tfam KO muscles due to a decreased expression of calsequestrin-1...
  69. pmc Ventricular arrhythmias after left ventricular assist device implantation
    Marwan Refaat
    Divisions of Cardiology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15213, USA
    Pacing Clin Electrophysiol 31:1246-52. 2008
    ..Despite the increasing use of LVAD, little is known regarding post-LVAD VAs at the molecular level and in vivo...
  70. doi Polymorphisms in multiple genes are associated with resting heart rate in a stepwise allele-dependent manner
    Stephen B Wilton
    Libin Cardiovascular Institute, University of Calgary, Alberta, Canada
    Heart Rhythm 5:694-700. 2008
    ..The purpose of this study was to use a candidate gene approach to identify common polymorphisms that are associated with resting sinus heart rate in a population without overt cardiovascular disease...
  71. doi Type 2 diabetes susceptibility genes on chromosome 1q21-24
    S J Hasstedt
    Department of Human Genetics, University of Utah, 15 N 2030 E, Salt Lake City, UT 84112, USA
    Ann Hum Genet 72:163-9. 2008
    ..The significant variant pairs were apolipoprotein A-II (APOA2) rs6413453 interacting with calsequestrin 1 (CASQ1) rs617698, dual specificity phosphatase 12 (DUSP12) rs1503814, and retinoid X receptor gamma (RXRG) ..
  72. pmc The Cleveland adolescent sleepiness questionnaire: a new measure to assess excessive daytime sleepiness in adolescents
    James C Spilsbury
    Department of Pediatrics, Division of Clinical Epidemiology and Biostatistics, Case School of Medicine, Cleveland, OH 44106 6083, USA
    J Clin Sleep Med 3:603-12. 2007
    Developed the Cleveland Adolescent Sleepiness Questionnaire (CASQ), a brief, self-completed instrument to measure excessive daytime sleepiness in adolescents.
  73. ncbi Attitudes toward suicide among Chinese people in Hong Kong
    Sing Lee
    Department of Psychiatry, Hong Kong Mood Disorders Center, Chinese Unviersity of Hong Kong, Shatin, NT, Hong Kong
    Suicide Life Threat Behav 37:565-75. 2007
    ..and quantitative methods, we developed a Hong Kong version of the Chinese Attitude toward Suicide Questionnaire (CASQ-HK) which assesses attitudes toward suicide, suicidal inclination under 12 hypothetical scenarios, and prior ..
  74. pmc Association analysis of chromosome 1 migraine candidate genes
    Francesca Fernandez
    Genomics Research Centre, School of Health Science, Griffith University, Gold Coast, Queensland, Australia
    BMC Med Genet 8:57. 2007
    ..In this study, we have undertaken a large genomic investigation involving candidate genes that lie within the chromosome 1q23 and 1q31 regions using an association analysis approach...
  75. ncbi Studies of association of the CASQ1 rs2275703 polymorphism in relation to type 2 diabetes and related quantitative metabolic traits among 7,088 Danish whites
    Thomas Sparsø
    Steno Diabetes Center, Niels Steensens Vej 1, NLC2 13, DK 2820, Gentofte, Denmark
    Mol Genet Metab 92:278-82. 2007
    b>Calsequestrin 1 (CASQ1) is a calcium storage protein of fast-twitch skeletal muscle cells...
  76. pmc Reorganized stores and impaired calcium handling in skeletal muscle of mice lacking calsequestrin-1
    Cecilia Paolini
    IIM Interuniversity Institute of Myology, Ce S I Centro Science dell Invecchiamento, University G D Annunzio, I 66013 Chieti, Italy
    J Physiol 583:767-84. 2007
    b>Calsequestrin (CS), the major Ca(2+)-binding protein in the sarcoplasmic reticulum (SR), is thought to play a dual role in excitation-contraction coupling: buffering free Ca(2+) increasing SR capacity, and modulating the activity of the ..
  77. ncbi Muscular degeneration in Duchenne's dystrophy may be caused by a mitochondrial defect
    B Lucas-Heron
    Laboratoire de Physiologie, UER de Medecine, Nantes, France
    Med Hypotheses 44:298-300. 1995
    ..Our work on skeletal muscle has demonstrated a mitochondrial deficiency of the calcium-specific protein, calmitine, in degenerating muscle of myopathic persons and animals...

Research Grants28

  1. Gene Targets of NKX 2.5 in the Conduction System
    Melvin Scheinman; Fiscal Year: 2004
    ..MinK and HCN-1) in the pathogenesis of arrhythmias in the ventricular restricted knockout mouse model. This will be done by using in-situ hybridization and immunohistochemistry to follow the pattern of expression of these ion channels. ..
  2. Prevention of depression among adolescents in Iceland
    W Craighead; Fiscal Year: 2004
    ..or higher on CASQNEG; 3) scoring 25th percentile or lower on CAS-POS; OR, 4) scoring 25th percentile or lower on CASQ-POS minus CASQ-NEG...
  3. CHRONIC OBSTRUCTIVE PULMONARY DISEASE GENE LOCALIZATION
    SANDRA HASSTEDT; Fiscal Year: 2002
    ..Identifying a gene that when mutated increases the risk of COPD may increase understanding of pulmonary function, as well as allowing gene-carriers to be identified and made aware of their susceptibility. ..
  4. MODELS FOR THE GENETIC EPIDEMIOLOGY OF CHRONIC DISEASES
    SANDRA HASSTEDT; Fiscal Year: 2003
    ..The software will be made available through a web site allowing potential users to obtain a copy at no charge and with no delay. Questions will be answered promptly when problems of usage arise. ..
  5. Developing Effective Treatments for Child Physical Abuse
    MELISSA RUNYON; Fiscal Year: 2005
    ..Parent-Only CBT). Assessments will be conducted at pre- and post-treatment, and 3-month follow-up. ..
  6. MODELS FOR THE GENETIC EPIDEMIOLOGY OF CHRONIC DISEASES
    SANDRA HASSTEDT; Fiscal Year: 1993
    ..The extensions proposed include regressive models for univariate and multivariate phenotypes, age of onset curves, and unequal variances across PAP for other users will be continued...
  7. MODELS FOR THE GENETIC EPIDEMIOLOGY OF CHRONIC DISEASE
    SANDRA HASSTEDT; Fiscal Year: 2009
    ..In addition, this application proposes to implement changes to increase computational speed, allow data exploration, and facilitate data handling and analysis, while continuing to distribute and support PAP. ..