A congenital disorder of deglycosylation: biochemical characterization of N‐glycanase 1 deficiency in patient fibroblasts (607.3)
He P, Ng B, Cresswell P, Grotzke J, Gunel M, Jafar‐Nejad H, Kodali V, Kaufman R, Freeze H. A congenital disorder of deglycosylation: biochemical characterization of N‐glycanase 1 deficiency in patient fibroblasts (607.3). The FASEB Journal 2014, 28 DOI: 10.1096/fasebj.28.1_supplement.607.3.Peer-Reviewed Original ResearchN-glycanase 1 (NGLY1) deficiencyN-glycanase 1Patient fibroblastsMisfolded glycoproteinsER stressPatient-derived fibroblastsFree oligosaccharidesSignal transductionProteasomal degradationBiochemical characterizationNGLY1Enzymatic activitySubstrate accumulationExome sequencingPhysiological conditionsDeglycosylationFibroblastsAbnormal liver functionGlycoproteinMutationsCongenital disorderPeripheral neuropathyLiver functionAltered size distributionTransduction