grant
Engineering a Human Skeletal Muscle Tissue Model of LGMD2B
NIHUS FederalResearch GrantFY20253-D3-Dimensional3DAcLDLAdipose tissueAgeAnimal ModelAnimal Models and Related StudiesAutoregulationBedsBiochemicalBiopsyBody TissuesCalciumCell BodyCell Culture TechniquesCell IsolationCell SegregationCell SeparationCell Separation TechnologyCell membraneCellsCholesterolCholesterol HomeostasisClinicalClinical TreatmentClinical TrialsCo-cultureCocultivationCocultureCoculture TechniquesComplementComplement ProteinsComplexCytoplasmic MembraneDNA mutationDYSFDYSF geneDiseaseDisease ProgressionDisorderDrug TherapyDrugsDysfunctionEngineeringEnvironmentEsterificationExerciseExhibitsExtremitiesFER1L1FatsFatty TissueFatty acid glycerol estersFunctional disorderGenerationsGenesGenetic ChangeGenetic defectGenetic mutationGoalsHistologicHistologicallyHomeostasisHumanImmune infiltratesImpairmentIn VitroInfiltrationInflammationInflammatoryInjuryIntramuscularInvestigationLGMD2BLimb girdle muscular dystrophy 2B (autosomal recessive)Limb structureLimb-Girdle Muscular DystrophiesLimbsLipidsMacrophageMediatingMedicationMembraneMembrane Protein GeneMembrane ProteinsMembrane-Associated ProteinsMetabolicMiceMice MammalsMitochondriaModelingModern ManMotilityMurineMusMuscleMuscle AtrophyMuscle CellsMuscle DiseaseMuscle DisordersMuscle FibersMuscle TissueMuscle WeaknessMuscular AtrophyMuscular DiseasesMuscular DystrophiesMuscular WeaknessMutationMyocardiumMyocytesMyodystrophicaMyodystrophyMyopathic ConditionsMyopathic Diseases and SyndromesMyopathic disease or syndromeMyopathyMyotubesMφNon-TrunkOrganellesPathogenicityPatientsPhagocytosisPharmaceutical PreparationsPharmacological StudyPharmacological TreatmentPharmacology StudyPharmacotherapyPhenotypePhysiological HomeostasisPhysiopathologyPlasma MembranePlayProcessProteinsRegulationReproducibilityRhabdomyocyteRoleSeverity of illnessSignal PathwaySkeletal FiberSkeletal MuscleSkeletal Muscle CellSkeletal Muscle FiberSkeletal MyocytesSourceStudy modelsSurface ProteinsSystemTestingTimeTissue EngineeringTissue ModelTissuesToxinVoluntary Muscleacetyl-LDLacetyl-low density lipoproteinsacetylated LDLacetylated low density lipoproteinadiposeagesbioengineered tissuecardiac musclecell culturecell culturescell sortingchip modelchip systemcholesterol biosynthesischolesterol metabolismclinical interventionclinical therapycomplementationcytokinedisease modeldisease phenotypedisease severitydisorder modeldrug discoverydrug interventiondrug treatmentdrug/agentdysferlindysferlinopathic diseasedysferlinopathiesdysferlinopathy diseaseengineered tissueexperiencefat metabolismfer-1-like family membergenome mutationheart musclehiPSChuman iPShuman iPSChuman induced pluripotent cellhuman induced pluripotent stem cellshuman inducible pluripotent stem cellshuman inducible stem cellshuman modeliPSiPSCiPSCsimmune cell infiltratein vitro Modelin vivoinduced human pluripotent stem cellsinduced pluripotent cellinduced pluripotent stem cellinducible pluripotent cellinducible pluripotent stem cellinflammatory environmentinflammatory milieuinjuriesinjury responseinterstitial celllimb-girdle muscular weakness and atrophylimb-girdle syndromelipid metabolismmembrane structuremitochondrialmodel of animalmodel of humanmuscle breakdownmuscle degradationmuscle deteriorationmuscle dystrophymuscle engineeringmuscle lossmuscle progenitormuscle progenitor cellmuscle stem cellmuscle wastingmuscularmuscular disordermyopathic limb-girdle syndromenew drug targetnew druggable targetnew pharmacotherapy targetnew therapeutic targetnew therapy targetnovelnovel drug targetnovel druggable targetnovel pharmacotherapy targetnovel therapeutic targetnovel therapy targeton a chipon chiporgan chiporgan developmentorgan growthorgan on a chiporgan on chippathophysiologypharmaceutical interventionpharmacologicpharmacological interventionpharmacological therapypharmacology interventionpharmacology treatmentpharmacotherapeuticsplasmalemmapre-clinicalpreclinicalrepairrepairedresponseresponse to injurysocial roletherapeutic targetthree dimensionaltranslational studytrial regimentrial treatmentuptakewhite adipose tissueyellow adipose tissue
Description preview
Limb girdle muscular dystrophy 2B (LGMD2B) is a late-onset progressive muscular dystrophy resulting from
mutations in the dysferlin gene. Dysferlin is a membrane-associated protein, highly expressed in skeletal and
cardiac muscle fibers where it orchestrates membrane repair in response to various injuries. Currently, there are
no ongoing clinical…
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