2013
Pluripotent Stem Cell Models of Shwachman-Diamond Syndrome Reveal a Common Mechanism for Pancreatic and Hematopoietic Dysfunction
Tulpule A, Kelley JM, Lensch MW, McPherson J, Park IH, Hartung O, Nakamura T, Schlaeger TM, Shimamura A, Daley GQ. Pluripotent Stem Cell Models of Shwachman-Diamond Syndrome Reveal a Common Mechanism for Pancreatic and Hematopoietic Dysfunction. Cell Stem Cell 2013, 12: 727-736. PMID: 23602541, PMCID: PMC3755012, DOI: 10.1016/j.stem.2013.04.002.Peer-Reviewed Original ResearchConceptsHuman embryonic stem cellsPluripotent stem cell modelsStem cell modelShwachman-Diamond syndromeHuman pluripotent stem cell modelSBDS protein expressionEmbryonic stem cellsDiamond syndrome (SBDS) geneStem cell linesHematopoietic dysfunctionPluripotent stem cell lineHematopoietic phenotypeInduced pluripotent stem cell lineHematopoietic differentiationCell modelTransgene rescueShwachman-BodianSyndrome geneHuman diseasesElevated protease levelsNovel insightsMechanistic linkStem cellsEnhanced apoptosisProtein expression
2011
Induced pluripotent stem cell models from X‐linked adrenoleukodystrophy patients
Jang J, Kang H, Kim H, Kim JY, Huh YJ, Kim D, Yoo J, Lee J, Lim B, Lee J, Yoon T, Park I, Hwang D, Daley GQ, Kim D. Induced pluripotent stem cell models from X‐linked adrenoleukodystrophy patients. Annals Of Neurology 2011, 70: 402-409. PMID: 21721033, DOI: 10.1002/ana.22486.Peer-Reviewed Original ResearchMeSH KeywordsAdrenoleukodystrophyATP Binding Cassette Transporter, Subfamily DATP-Binding Cassette TransportersBrainCell DifferentiationDNAExcitatory Postsynaptic PotentialsFatty Acids, NonesterifiedHematopoietic Stem Cell TransplantationHumansHydroxymethylglutaryl-CoA Reductase InhibitorsInduced Pluripotent Stem CellsLovastatinNeuronsOligodendrogliaPhenotypePhenylbutyratesReverse Transcriptase Polymerase Chain ReactionConceptsChildhood cerebral ALDX-ALDVLCFA accumulationLong chain fatty acid levelsAppropriate animal model systemsSevere clinical manifestationsFatty acid levelsAnimal model systemsDisease-relevant phenotypesClinical manifestationsCerebral ALDABCD1 mutationsAdrenoleukodystrophy patientsDevelopment of therapeuticsHuman oligodendrocytesUnique cellular modelDisease subtypesAbnormal accumulationAccurate diagnosisPluripotent stem cell modelsOligodendrocytesNew therapeuticsAcid levelsOligodendrocyte differentiationStem cell model