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
2007
Disruption of cAMP and Prostaglandin E2 Transport by Multidrug Resistance Protein 4 Deficiency Alters cAMP-Mediated Signaling and Nociceptive Response
Lin ZP, Zhu YL, Johnson DR, Rice KP, Nottoli T, Hains BC, McGrath J, Waxman SG, Sartorelli AC. Disruption of cAMP and Prostaglandin E2 Transport by Multidrug Resistance Protein 4 Deficiency Alters cAMP-Mediated Signaling and Nociceptive Response. Molecular Pharmacology 2007, 73: 243-251. PMID: 17959714, PMCID: PMC2780335, DOI: 10.1124/mol.107.039594.Peer-Reviewed Original ResearchConceptsNociceptive responsesPG synthesisInflammatory nociceptive responsesInflammatory pain thresholdWild-type miceCyclooxygenase-2 expressionMrp4 knockout miceMultidrug resistance protein 4Accumulation of intracellularMEF cellsMRP4 knockdownNucleotide agentsPain thresholdDisruptions of cAMPPGE metabolitePG levelsEnergy-dependent effluxProtein 4MiceMRP4PG transportIntracellular levelsProstaglandinsATP-binding cassette (ABC) familyPronounced reduction
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