grant
Structure and function of chloride channels, transporters and scramblases
Organization WEILL MEDICAL COLL OF CORNELL UNIVLocation NEW YORK, UNITED STATESPosted 1 Jan 2024Deadline 31 Dec 2028
NIHUS FederalResearch GrantFY2026AnionsAutoregulationBSF3Blood ClottingBlood coagulationBone DiseasesBrainBrain Nervous SystemCIC-1 proteinCLCCLC GeneCLC-1 channelCLC-1 proteinChloride ChannelsChloride Ion ChannelsCoupledDNA mutationDataDevelopmentDiseaseDisorderDysfunctionDysplasiaEncephalonEpitheliumFamilyFunctional disorderGeneralized Myotonia of ThomsenGenetic ChangeGenetic defectGenetic mutationGoalsHereditary DiseaseHomeostasisHumanImpairmentInborn Genetic DiseasesInherited disorderIntegral Membrane ProteinIntrinsic Membrane ProteinIon ChannelIonic ChannelsKidneyKidney Urinary SystemLimb-Girdle Muscular DystrophiesLipidsMembrane ChannelsMembrane FusionMembrane Transport ProteinsMembrane TransportersMissense MutationModern ManMolecularMolecular ConfigurationMolecular ConformationMolecular StereochemistryMuscleMuscle DiseaseMuscle DisordersMuscle TissueMuscular DiseasesMutateMutationMyopathic ConditionsMyopathic Diseases and SyndromesMyopathic disease or syndromeMyopathyMyotonia CongenitaPhysiologicPhysiologicalPhysiological HomeostasisPhysiologyPhysiopathologyPlayProcessPropertyProteinsRegulationResearchSodium ChlorideStimulusStructureStructure-Activity RelationshipThomsen DiseaseTransmembrane ProteinTransmembrane Protein GeneWorkabsorptionbone disorderchemical structure functionconformationconformationalconformational stateconformationallyconformationscongenital myotoniadevelopmentaldisease causing variantdisease-causing alleledisease-causing mutationdyscrasiagenome mutationhereditary disorderheritable disorderinborn errorinherited diseasesinherited genetic diseaseinherited genetic disorderinsightlimb-girdle muscular weakness and atrophylimb-girdle syndromeloss of function mutationmembermissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmolecular recognitionmuscularmuscular disordermyopathic limb-girdle syndromeneuromuscularnonspecific phospholipid transfer proteinspathogenic allelepathogenic variantpathophysiologypharmacologicphospholipid scramblaseprotein functionrational designrenalrepairrepairedsaltskeletal muscle chloride channel CIC-1structure function relationshiptargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmenttooltool developmentvoltage
Description preview
ABSTRACT
Anion channels, active transporters, and lipid scramblases are central players in human physiology. These
integral membrane proteins play key roles in physiology where they control a panoply of processes, ranging from
epithelial salt reabsorption and neuromuscular excitability to blood coagulation, membrane fusion and repair. My
long-term…
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