NT5E Mutations That Cause Human Disease Are Associated with Intracellular Mistrafficking of NT5E Protein
Fausther M, Lavoie EG, Goree JR, Baldini G, Dranoff JA. NT5E Mutations That Cause Human Disease Are Associated with Intracellular Mistrafficking of NT5E Protein. PLOS ONE 2014, 9: e98568. PMID: 24887587, PMCID: PMC4041762, DOI: 10.1371/journal.pone.0098568.Peer-Reviewed Original ResearchConceptsHuman diseasesWild typeCOS-7 kidney cellsWild-type proteinNovel genetic causesSubcellular traffickingER retentionMalachite green assayHeterologous expressionType proteinDefective proteinMutant fusionTrafficking defectsPlasma membraneExtracellular environmentGene mutationsDegradation of AMPBiochemical activityConfocal immunofluorescenceDistinct familiesWestern blot analysisCatalytic functionSynthetic apparatusMutant humanCell surface