2020
Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations
Liang K, Kristiansen C, Mostafavi S, Vatne G, Zantingh G, Kianian A, Tzoulis C, Høyland L, Ziegler M, Perez R, Furriol J, Zhang Z, Balafkan N, Hong Y, Siller R, Sullivan G, Bindoff L. Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations. EMBO Molecular Medicine 2020, 12: emmm202012146. PMID: 32840960, PMCID: PMC7539330, DOI: 10.15252/emmm.202012146.Peer-Reviewed Original ResearchConceptsPOLG mutationsComplex ILoss of complex IHeterozygous POLG mutationsMitochondrial dysfunctionLoss of mtDNAFate determination processesHuman stem cell modelsNeural stem cellsMtDNA replicationIncreased UCP2 expressionStem cellsAssociated with POLG mutationsMtDNANAD+ metabolismActivating mitophagyPOLGNeurological phenotypePost-mortem brain tissueDisease-specific phenotypesPatient cellsStem cell modelMutationsBiochemical defectROS overproduction
1981
Genetics of Childhood Behavior Disorders
Pauls D, Kidd K. Genetics of Childhood Behavior Disorders. Advances In Clinical Child Psychology 1981, 331-362. DOI: 10.1007/978-1-4613-9808-0_9.Peer-Reviewed Original Research
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