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Calcium signalling and disease : molecular pathology of calcium PDF

591 Pages·2007·5.426 MB·English
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Calcium Signalling and Disease Subcellular Biochemistry Volume 45 SUBCELLULAR BIOCHEMISTRY SERIES EDITOR J.ROBINHARRIS,UniversityofMainz,Mainz,Germany ASSISTANT EDITORS B.B.BISWAS,UniversityofCalcutta,Calcutta,India P.QUINN,King’sCollegeLondon,London,U.K RecentVolumesinthisSeries Volume31 IntermediateFilaments EditedbyHaraldHerrmannandJ.RobinHarris Volume32 alpha-GalandAnti-Gal:alpha-1,3-Galactosyltransferase,alpha-GalEpitopes andtheNaturalAnti-GalAntibody EditedbyUriGaliliandJos-LuisAvila Volume33 BacterialInvasionintoEukaryoticCells TobiasA.OelschlaegerandJorgHacker Volume34 FusionofBiologicalMembranesandRelatedProblems EditedbyHerwigHildersonandStefanFuller Volume35 Enzyme-CatalyzedElectronandRadicalTransfer AndreasHolzenburgandNigelS.Scrutton Volume36 PhospholipidMetabolisminApoptosis EditedbyPeterJ.QuinnandValerianE.Kagan Volume37 MembraneDynamicsandDomains EditedbyP.J.Quinn Volume38 Alzheimer’sDisease:CellularandMolecularAspectsofAmyloidbeta EditedbyR.HarrisandF.Fahrenholz Volume39 BiologyofInositolsandPhosphoinositides EditedbyA.LahiriMajumderandB.B.Biswas Volume40 ReviewsandProtocolsinDT40Research EditedbyJean-MarieBuersteddeandShunichiTakeda Volume41 ChromatinandDisease EditedbyTapasK.KunduandDipakDasgupta Volume42 InflammationinthePathogenesisofChronicDiseases EditedbyRandallE.Harris Volume43 SubcellularProteomics EditedbyEricBertrandandMichelFaupel Volume44 PeroxiredoxinSystems EditedbyLeopoldFlohéandJ.RobinHarris Volume45 CalciumSignallingandDisease EditedbyErnestoCarafoliandMarisaBrini Calcium Signalling and Disease Molecular Pathology of Calcium Subcellular Biochemistry Volume 45 Edited by Ernesto Carafoli UniversityofPadova,Italy and Marisa Brini UniversityofPadova,Italy ThisseriesisacontinuationofthejournalSub-CellularBiochemistry.Volume1to4ofwhichwere publishedquarterlyfrom1972to1975 ISBN978-1-4020-6190-5(HB) ISBN978-1-4020-6191-2(e-book) ©2007Springer Allrightsreserved.Thisworkmaynotbetranslatedorcopiedinwholeorinpartwithoutthewritten permissionofthepublisher(SpringerScience+BusinessMedia,Inc.,233Springerstreet,NewYork, NY 10013, USA), except for brief excerpts in connection with review or scholarly analysis. Use in connectionwithanyformofinformationstorageandretrieval,electronicadaption,computersoftware, orbysimilarordissimilarmethodologynowknownorhereafterdevelopedisforbidden. Theuseinthispublicationoftradenames,trademarks,servicemarksandsimilarterms,whetherornot theyaresubjecttoproprietaryrights. (BS/DH) 9 8 7 6 5 4 3 2 1 springer.com CONTENTS List of Contributors vii Prologue xi 1. Annexinopathies 1 M.J. Hayes, R.E. Longbottom, M.A. Evans and S.E. Moss 2. Calpains and Human Disease 29 I. Bertipaglia and E. Carafoli 3. Gelsolin and Diseases 55 L. Spinardi and W. Witke 4. Guanylate Cyclase-Activating Proteins and Retina Disease 71 W. Baehr and K. Palczewski 5. Pathologies Involving the S100 Proteins and Rage 93 C.W. Heizmann, G.E. Ackermann and A. Galichet 6. The Calcium-Sensing Receptor: Physiology, Pathophysiology and CaR-Based Therapeutics 139 E.M. Brown 7. Physiological Roles of the Ca2+/CaM-Dependent Protein Kinase Cascade in Health and Disease 169 J. Colomer and A.R. Means 8. Calcium Channelopathies: Voltage-gated Calcium Channels 215 P.J. Adams and T.P. Snutch 9. TRP Channels in Disease 253 S.E. Jordt and B.E. Ehrlich 10. Diseases Associated with Altered Ryanodine Receptor Activity 273 W.J. Durham, X.H.T. Wehrens, S. Sood and S.L. Hamilton v vi Contents 11. Inositol 1,4,5-tripshosphate Receptor, Calcium Signalling and Huntington’s Disease 323 I. Bezprozvanny 12. SERCA Pumps and Human Diseases 337 A. Hovnanian 13. The Plasma Membrane Calcium ATPase and Disease 365 B.L Tempel and D.J. Shilling 14. Diseases Involving the Golgi Calcium Pump 385 J.Vanoevelen,L.Dode,L.Raeymaekers,F.WuytackandL.Missiaen 15. Calcium Signalling and Cancer Cell Growth 405 T. Capiod, Y. Shuba, R. Skryma and N. Prevarskaya 16. Calcium Misregulation and the Pathogenesis of Muscular Dystrophy 429 F.W. Hopf, P.R. Turner and R.A. Steinhardt 17. Calcium and Cell Death 465 A. Verkhratsky 18. Calcium and Cell Death: The Mitochondrial Connection 481 P. Bernardi and A. Rasola 19. Role of Calcium in the Pathogenesis of Alzheimer’s Disease and Transgenic Models 507 K.N. Green, I.F. Smith and F.M. LaFerla 20. Calcium and Cardiomyopathies 523 E.G. Kranias and D.M. Bers 21. Calcium Signalling and Calcium Transport in Bone Disease 539 H.C. Blair, P.H. Schlesinger, C.L.-H. Huang and M. Zaidi Index 563 Colour Plates 567 LIST OF CONTRIBUTORS M.J. Hayes, R.E. Longbottom, M.A. Evans and S.E. Moss Div.ofCellBiology,UniversityCollegeLondonInstituteofOphthalmology,11–43 Bath Street, London EC1V 9EL, UK I. Bertipaglia and E. Carafoli Department of Biochemistry, University of Padova, and Venetian Institute of Molecular Medicine, Padova, Italy L. Spinardi Direzione Scientifica, IRCCS Fondazione Ospedale Policlinico, Mangiagalli e Regina Elena, Via Francesco Sforza 28, 20122 Milano, Italy W. Witke EMBL Monterotondo, Via Ramarini 32, 00096 Monterotondo, Rome, Italy W. Baehr Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah 84112-5339, USA K. Palczewski Department of Pharmacology, Case School of Medicine, Case Western Reserve University, Cleveland, Ohio 44106-4965, USA C.W. Heizmann, G.E. Ackermann and A. Galichet Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Switzerland E.M. Brown Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, 221 Longwood Avenue, 02115 Boston, MA, USA J. Colomer and A.R. Means DepartmentofPharmacologyandCancerBiology,DukeUniversityMedicalCenter P.J. Adams MichaelSmithLaboratorie,UniversityofBritishColumbia,Vancouver,BC,Canada V6T1Z4 vii viii List of contributors T.P. Snutch Neuromed Pharmaceuticals Inc., 2389 Health Sciences Mall Vancouver, BC, Canada V6T1Z4 S.E. Jordt and B.E. Ehrlich Department of Pharmacology, Yale University School of Medicine, Department of Pharmacology, 333 Cedar Street, New Haven, CT 06520-8066 W.J. Durham, S. Sood and S.L. Hamilton Department of Molecular Physiology and Biophysics X.H.T. Wehrens Department of Molecular Physiology and Biophysics, Department of Medicine (Division of Cardiology), Baylor College of Medicine, Houston, TX 77030 I. Bezprozvanny Department of Physiology, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA A. Hovnanian INSERM,U563,Toulouse,F-31300France;UniversitéToulouseIIIPaul-Sabatier, UMR-S 563, Toulouse, F-31400 France B.L Tempel and D.J. Shilling The Department of Otolaryngology-Head and Neck Surgery, the Department of Pharmacology, and the V.M. Bloedel Hearing Research Center; University of Washington School of Medicine, Seattle WA 98195-7923, USA J. Vanoevelen, L. Dode, L. Raeymaekers, F. Wuytack and L. Missiaen Laboratory of Physiology, KULeuven Campus Gasthuisberg O&N1, Herestraat 49 bus 802, B-3000 Leuven, Belgium T. Capiod, R. Skryma and N. Prevarskaya INSERM U800, Laboratoire de Physiologie Cellulaire, Université des Sciences et Technologies Lille 1, 59655 Villeneuve d’Ascq Cedex, France Y. Shuba Bogomoletz Institute of Physiology, NASU, Bogomoletz Str, 4, 01024 Kiev-24, Ukraine F.W. Hopf Ernest Gallo Clinic and Research Center, University of California, San Francisco, 5858 Horton St., Suite 200, Emeryville, CA 94608 P.R. Turner Panomics, 6519 Dumbarton Circle, Fremont, CA, 94555 R.A. Steinhardt Department of Molecular and Cell biology, University of California, Berkeley, Berkeley, CA 94720-3200 List of contributors ix A. Verkhratsky Faculty of Life Sciences, The University of Manchester, 1.124 Stopford Building, Oxford Road,Manchester M13 9PT, UK P. Bernardi and A. Rasola Department of Biomedical Sciences, University of Padova, Viale Giuseppe Colombo 3, 35121 Padova, Italy K.N. Green, I.F. Smith and F.M. LaFerla Department of Neurobiology and Behavior, University of California, Irvine CA 92697-4545 E.G. Kranias DepartmentofPharmacologyandCellBiophysics,CollegeofMedicine,University of Cincinnati, Cincinnati, OH 45267 D.M. Bers DepartmentofPhysiology,LoyolaUniversityChicago,StritchSchoolofMedicine, Maywood, IL 60153 H.C. Blair, P.H. Schlesinger, Christopher L.-H. Huang and M. Zaidi Departments of Pathology and of Cell Biology and Physiology, University of PittsburghandVeterans’AffairsHealthSystem,Pittsburgh,PA15261,Department of Physiology and Cell Biology, Washington University School of Medicine, St. Louis,MO63110,PhysiologicalLaboratory,UniversityofCambridge,Cambridge, CB2 3EG, United Kingdom, and The Bone Program, Mount Sinai School of Medicine, New York, New York 10029

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