2015
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts
He P, Grotzke JE, Ng BG, Gunel M, Jafar-Nejad H, Cresswell P, Enns GM, Freeze HH. A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology 2015, 25: 836-844. PMID: 25900930, PMCID: PMC4487302, DOI: 10.1093/glycob/cwv024.Peer-Reviewed Original ResearchMeSH KeywordsBacterial ProteinsDevelopmental DisabilitiesEnzyme AssaysExonsEye Diseases, HereditaryFibroblastsGene ExpressionGenes, ReporterHepatic InsufficiencyHumansLacrimal Apparatus DiseasesLuminescent ProteinsMutationPeptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidasePeripheral Nervous System DiseasesPrimary Cell CultureSeizuresConceptsAbnormal liver functionPatient fibroblastsPeripheral neuropathyLiver functionPatient-derived fibroblastsDevelopmental delayCongenital disorderN-glycanase 1 (NGLY1) deficiencyVenus fluorescencePronounced reductionFibroblastsN-glycanase 1Enzymatic activityMutationsNGLY1NeuropathyPatientsSeizuresAlacrimaActivity
2014
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