Neuronal Chloride Transporters in Health and Disease PDF
Preview Neuronal Chloride Transporters in Health and Disease
Neuronal Chloride Transporters in Health and Disease Neuronal Chloride Transporters in Health and Disease Edited by Xin Tang Massachusetts Institute of Technology, Cambridge, MA, United States AcademicPressisanimprintofElsevier 125LondonWall,LondonEC2Y5AS,UnitedKingdom 525BStreet,Suite1650,SanDiego,CA92101,UnitedStates 50HampshireStreet,5thFloor,Cambridge,MA02139,UnitedStates TheBoulevard,LangfordLane,Kidlington,OxfordOX51GB,UnitedKingdom ©2020ElsevierInc.Allrightsreserved. Nopartofthispublicationmaybereproducedortransmittedinanyformorbyanymeans,electronicor mechanical,includingphotocopying,recording,oranyinformationstorageandretrievalsystem,without permissioninwritingfromthepublisher.Detailsonhowtoseekpermission,furtherinformationaboutthe Publisher’spermissionspoliciesandourarrangementswithorganizationssuchastheCopyrightClearance CenterandtheCopyrightLicensingAgency,canbefoundatourwebsite:www.elsevier.com/permissions. ThisbookandtheindividualcontributionscontainedinitareprotectedundercopyrightbythePublisher (otherthanasmaybenotedherein). Notices Knowledgeandbestpracticeinthisfieldareconstantlychanging.Asnewresearchandexperiencebroadenour understanding,changesinresearchmethods,professionalpractices,ormedicaltreatmentmaybecome necessary. Practitionersandresearchersmustalwaysrelyontheirownexperienceandknowledgeinevaluatingandusing anyinformation,methods,compounds,orexperimentsdescribedherein.Inusingsuchinformationormethods theyshouldbemindfuloftheirownsafetyandthesafetyofothers,includingpartiesforwhomtheyhavea professionalresponsibility. Tothefullestextentofthelaw,neitherthePublishernortheauthors,contributors,oreditors,assumeanyliability foranyinjuryand/ordamagetopersonsorpropertyasamatterofproductsliability,negligenceorotherwise,or fromanyuseoroperationofanymethods,products,instructions,orideascontainedinthematerialherein. LibraryofCongressCataloging-in-PublicationData AcatalogrecordforthisbookisavailablefromtheLibraryofCongress BritishLibraryCataloguing-in-PublicationData AcataloguerecordforthisbookisavailablefromtheBritishLibrary ISBN978-0-12-815318-5 ForinformationonallAcademicPresspublications visitourwebsiteathttps://www.elsevier.com/books-and-journals Publisher:NikkiLevy AcquisitionsEditor:NatalieFarra EditorialProjectManager:MeganAshdown ProductionProjectManager:SwapnaSrinivasan CoverDesigner:MarkRogers TypesetbySPiGlobal,India Contributors EricaT.Akhter DepartmentofPhysiology;DepartmentofCellBiology,EmoryUniversity,Schoolof Medicine,Atlanta, GA, United States Tenpei Akita Department ofNeurophysiology, Hamamatsu University School of Medicine, Hamamatsu, Japan Sana Al Awabdh Institut du Fer a` Moulin,INSERM, Sorbonne University, Paris, France FranciscoJ.Alvarez DepartmentofPhysiology,EmoryUniversity,SchoolofMedicine,Atlanta,GA, United States Yehezkel Ben-Ari Neurochlore, Ben-AriInstitute ofNeuroarcheology (IBEN), B^atiment Beret- Delaage, Grand Luminy Biotech, Marseille,France Mohammad Iqbal H.Bhuiyan Department ofNeurology, University ofPittsburgh School of Medicine,Pittsburgh,PA, United States MariaBolla BrainDevelopmentandDiseaseLaboratory,IstitutoItalianodiTecnologia;Universityof Genoa, Genoa,Italy LauraCancedda BrainDevelopmentandDiseaseLaboratory,IstitutoItalianodiTecnologia,Genoa; Dulbecco Telethon Institute,Rome, Italy Shao-RuiChen CenterforNeuroscienceandPainResearch,DepartmentofAnesthesiologyandPain Medicine,The University ofTexas MD Anderson Cancer Center, Houston, TX, United States Quentin Chevy Institut du Fer a` Moulin, INSERM, SorbonneUniversity, Paris, France BiceChini CNRInstituteofNeuroscience;DepartmentofMedicalBiotechnologyandTranslational Medicine,UniversityofMilan;HumanitasClinicalandResearchCenter—IRCCS,Rozzano,Milan,Italy Marie-PascaleCo^t(cid:2)e MarionMurraySpinalCordResearchCenter,DepartmentofNeurobiologyand Anatomy,DrexelUniversity, Philadelphia, PA, United States ArthurW.English DepartmentofCellBiology,EmoryUniversity,SchoolofMedicine,Atlanta,GA, United States DianaC.Ferrari Neurochlore,Ben-AriInstituteofNeuroarcheology(IBEN),B^atimentBeret-Delaage, Grand Luminy Biotech, Marseille,France Atsuo Fukuda Department ofNeurophysiology, Hamamatsu University School of Medicine, Hamamatsu, Japan Nouchine Hadjikhani A. A.Martinos Centerfor Biomedical Imaging, Massachusetts Hospital, HarvardMedicalSchool,Charlestown,MA,UnitedStates;GillbergNeuropsychiatryCenter,University ofGothenburg,Sahlgrenska Academy, Go€teborg, Sweden Knut Holthoff Hans-Berger Department ofNeurology, Jena UniversityHospital, Jena, Germany Saiyun Hou Centerfor Neuroscienceand Pain Research, Department ofAnesthesiology and Pain Medicine,The University ofTexas MD Anderson Cancer Center, Houston, TX, United States xix xx Contributors HuachenHuang DepartmentofNeurology,UniversityofPittsburghSchoolofMedicine,Pittsburgh, PA, United States; Departmentof Neurology, First Affiliate Hospital, Harbin Medical University, Harbin, Heilongjiang,China Lori L. Isom Departmentof Pharmacology, University of Michigan, Ann Arbor,MI, United States LaurenL.Jantzie DepartmentofPediatrics;DepartmentofNeurosciences,UniversityofNewMexico Health Sciences Center, Albuquerque, NM; Division ofNeonatal-Perinatal Medicine,Department of Pediatrics,JohnsHopkinsUniversity,Baltimore;DepartmentofNeurology,JohnsHopkinsUniversity; Kennedy Krieger Institute,Baltimore, MD,United States Anass Jawhari CALIXAR, Lyon, France FrancesE. Jensen Departmentof Neurology, PerelmanSchool of Medicine, University of Pennsylvania,Philadelphia,PA, United States Tong Jiang Department ofNeurology,University ofPittsburgh SchoolofMedicine, Pittsburgh,PA, United States Nicholas J. Justice Institute of MolecularMedicine, Universityof Texas HealthSciences Center, Houston, TX, United States ShilpaD. Kadam Hugo Moser Research Institute at Kennedy Krieger; Department ofNeurology, Johns HopkinsUniversity School of Medicine, Baltimore, MD,United States WernerKilb InstituteofPhysiology,UniversityMedicalCenteroftheJohannesGutenberg-University Mainz, Mainz,Germany KnutKirmse Hans-Berger Department of Neurology, Jena University Hospital,Jena, Germany Eric Lemonnier Autism Expert Center of Limoges,CHU of Limoges,Limoges,France SabineL(cid:2)evi Institut du Fer a` Moulin, INSERM,SorbonneUniversity, Paris, France Wolfgang Liedtke Department ofNeurology;Departments ofAnesthesiology;Department of Neurobiology,Duke University Medical Center, Durham,NC, United States OlayaLlano NeuroscienceCenter,HelsinkiInstituteofLifeScience,UniversityofHelsinki,Helsinki, Finland Anastasia Ludwig Neuroscience Center, HelsinkiInstitute of Life Science, University of Helsinki, Helsinki, Finland JamieMaguire NeuroscienceDepartment,TuftsUniversitySchoolofMedicine,Boston,MA,United States VivekMahadevan Department ofCelland Systems Biology, University of Toronto,Toronto, ON, Canada Igor Medina Aix-MarseilleUniversity,UMR1249,INSERM(InstitutNationaldelaSant(cid:2)eetdela RechercheM(cid:2)edicale)Unit(cid:2)e1249,INMED(InstitutdeNeurobiologiedelaM(cid:2)editerran(cid:2)ee),Marseille,France JessieC.Newville DepartmentofPediatrics;DepartmentofNeurosciences,UniversityofNewMexico Health Sciences Center, Albuquerque, NM, United States HeatherA.O’Malley DepartmentofPharmacology,UniversityofMichigan,AnnArbor,MI,United States Akosua Y. Oppong Division of Pediatric Neurosurgery, Johns Hopkins University, Baltimore, MD, United States Hui-Lin Pan Center for Neuroscienceand Pain Research,Department ofAnesthesiologyand Pain Medicine, The University of Texas MD Anderson CancerCenter,Houston, TX, United States Contributors xxi LucieI.Pisella Aix-MarseilleUniversity,UMR1249,INSERM(InstitutNationaldelaSant(cid:2)eetdela Recherche M(cid:2)edicale) Unit(cid:2)e1249, INMED (Institut de Neurobiologiede la M(cid:2)editerran(cid:2)ee), Marseille, France Jean Christophe Poncer Institut du Fer a` Moulin,INSERM, SorbonneUniversity, Paris, France Davide Pozzi Department ofBiomedical Sciences, Humanitas University, Milan,Italy Jessica C.Pressey Department ofCell and SystemsBiology, University of Toronto,Toronto, ON, Canada Denis Ravel Neurochlore, B^atiment Beret-Delaage,Grand Luminy Biotech, Marseille,France Claudio Rivera NeuroscienceCenter, Helsinki Institute ofLife Science,University ofHelsinki, Helsinki, Finland; INSERM,Institutde Neurobiologie de laM(cid:2)editerran(cid:2)ee (INMED); Aix-Marseille University, UMR S901, Parc Scientifiquede Luminy, Marseille,France Shenandoah Robinson Division of PediatricNeurosurgery, Johns HopkinsUniversity, Baltimore, MD, United States Annalisa Savardi BrainDevelopment and DiseaseLaboratory, IstitutoItaliano di Tecnologia; Universityof Genoa, Genoa;Fondazione Telethon,Rome, Italy Cl(cid:2)emence Simonnet Institut du Fer a` Moulin, INSERM, SorbonneUniversity, Paris, France YeriJ. Song Department of Neurology,Perelman School ofMedicine, University of Pennsylvania, Philadelphia, PA, United States BrennanJ.Sullivan HugoMoserResearchInstituteatKennedyKrieger,Baltimore,MD,UnitedStates Dandan Sun Department ofNeurology,University ofPittsburgh School ofMedicine; Pittsburgh InstituteforNeurodegenerativeDisorders,UniversityofPittsburgh;VeteransAffairsPittsburghHealth Care System,GeriatricResearch,Educational and Clinical Center, Pittsburgh, PA, UnitedStates TaranehTaheri DepartmentofNeurology,UniversityofPittsburghSchoolofMedicine,Pittsburgh, PA, UnitedStates DeliaM.Talos DepartmentofNeurology,PerelmanSchoolofMedicine,UniversityofPennsylvania, Philadelphia, PA, United States Miho Watanabe Department of Neurophysiology,HamamatsuUniversity School of Medicine, Hamamatsu, Japan MelanieA.Woodin DepartmentofCellandSystemsBiology,UniversityofToronto,Toronto,ON, Canada Li Yang School of Life Sciences, GuangzhouUniversity, Guangzhou, China MicheleYeo DepartmentofNeurology,DukeUniversityMedicalCenter,Durham,NC,UnitedStates ZhonglingZhang Departmentof Neurology, First Affiliate Hospital, Harbin Medical University, Harbin, Heilongjiang,China IliasZiogas BrainDevelopmentandDiseaseLaboratory,IstitutoItalianodiTecnologia;Universityof Genoa, Genoa,Italy Preface I became fascinated with neuronal chloride transporters for their unique and intriguing properties as the “keystone” molecules that maintain the intricate balancebetweenexcitationandinhibitioninthebrain.Myearlyinvestigation into KCC2 as a Ph.D. candidate at Pennsylvania State University inspired my postdoctoral work at MIT that, at its core, sought to shed light on the role of KCC2inAutismanditspotentialasatherapeutictarget.Havingmadeasmall contribution to a burgeoning area of neuroscience research linking impair- mentsintheexpressionorfunctionofchloridetransporterstoanextendinglist ofneurologicaldisordersspanningfromautismtoneurodegeneration,Ihada growingaspirationtolearneverythingaboutthesetransportersandtoconnect with a communityof KCC2-curious investigators. AterrificopportunitytodojustthatpresenteditselfinApril2017,whenIgavea talkataKCC2symposiumattheExperimentalBiologyconferenceinChicago.I wasapproachedbyaneditorfromElsevierwithaninvitationtoorganizeabook projectaboutmyfavoritetopic:neuronalchloridetransporters.Theinvitation to compile such a textbook was an honor but also seemed like a daunting undertaking. The more I thought about this invitation during the flight back toBoston,themorecertainIbecame:Isimplycouldnotletsuchagreatoppor- tunity passme by. Immediately after accepting the offer, I reached out to dozens of researchers with diverse areas of expertise but a common intellectual interest in chloride transporters.Iwasamazedbytheoverwhelmingexcitementfromtheseleading experts about authoring a chapter for the textbook. Now, more than 2 years later,thewisdom,vision,andhardworkfromourpanelofexpertauthorshave been distilled into this accessible and unprecedented textbook, and we are thrilled tosharethis with you! Iamdelightedtoinviteyoutoopenthepagesofourbookandjoinmeonthis marvelousjourneytodiscovermoreaboutneuronalchloridetransporters.We cover both basic and translational topics related to neuronal chloride trans- porters, including their chloride transport-dependent and -independent xxiii xxiv Preface functions,molecularandcellularbiology,relevancetomanyvariousneurolog- icaldisordersfromautismandepilepsytospinalcordinjuryandneurodegen- eration, and, finally, therapeutic development and in clinical trials targeting theseproteins.Webelievethatournewbookwillprovidetothereadersacom- prehensive and up-to-date summary of recent advances in neuronal chloride transporter research, with particular emphasis on some key emerging topics. A vision that has become apparent to me from the experience of editing this bookisthatthroughdisseminatingawiderangeofrecentresearchaboutneu- ronal chloride transporters, spanning from molecular genetics to signaling mechanismstodrugdevelopment,wewillencouragefutureinterdisciplinarity in the field to reach the goals of generating novel fundamental biological insights and ultimately achieving atrue bench-to-bedside translation. Xin Tang MA, USA April 2020 Acknowledgments This enriching and unforgettable experience would not have been possible withoutthesupportfrommany,manypeople.Firstandforemost,myheartfelt thanks go to all of the authors who, driven by their passion for the scientific topics,weregenerousenoughtosharetheiruniqueinsightsanddevotedcount- lesshoursoutoftheirbusyscheduletoplan,write,andrevisethebookchap- ters.Ihopethatactuallygettingtoseetheculminationofallyourhardworkin printservesasarewardingpayoffforyourdedication.Iwouldalsoliketothank the editors at Elsevier, Megan Ashdown, Nathalie Farra, and Erin Hill-Parks, who helped me navigate the unfamiliar territoryof book editing. My professional training started at the Pennsylvania State University, where Dr.GongChenusheredmeintotheworldofneurophysiologyandfirsttaught meaboutKCC2andNKCC1inhisneurobiologyclass.AtMIT,mypostdoctoral mentorsDrs.RudolfJaenischandMrigankaSurfullyendorsedmydecisionto pursueaprojectonmyfavoritegeneKCC2andhavecontinuedtobeverysup- portive throughout the undertaking of this book project. My mentors have undoubtedly shaped my scientific interests and practice. I have benefited tre- mendouslyfrom their tutelage. Manyfriendsmadesignificantcontributionstothebookproject.CullenClair- montdedicatedalargeamountoftimetoreadthroughmanyofthechapters andgaveinsightfulcritiqueandcomments.Dr.MahalaBurn,havingbookedit- ingexperienceherself,advisedmethroughoutthisever-evolvingproject.Ona separatenote,IwouldalsoliketoexpressmygratitudetotheBostonMBTARed Line train for providing an undisrupted environment with just the right amount ofbackgroundnoise forwritingand editingthebook, onecommute at atime. Lastbutnotleast,myfamilyplayedmajorrolesinthisproject.Iwouldliketo thank my parents, Pule Tang and Xingping Zhang, for instilling in me the notionsofservice,responsibility,andpursuitofexcellence;mywonderfulwife Zaoli Zhang for her unfaltering encouragement, understanding, and support xxv
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