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
2013
Mutations in CSPP1 Lead to Classical Joubert Syndrome
Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG. Mutations in CSPP1 Lead to Classical Joubert Syndrome. American Journal Of Human Genetics 2013, 94: 80-86. PMID: 24360807, PMCID: PMC3882909, DOI: 10.1016/j.ajhg.2013.11.015.Peer-Reviewed Original ResearchConceptsJoubert syndromeDistinctive mid-hindbrain malformationMid-hindbrain malformationPrimary cilia dysfunctionPrimary ciliaKidney diseaseLarge cohortVariable involvementRelated disordersHuman neurogenesisNeural tissueProtein levelsAffected individualsSyndromeCilia dysfunctionCohortNeural-specific functionsCausative mutationsMutationsNull mutationCSPP1IndividualsCiliaDysfunctionJSRD