2023
P154 The generation of a GNE myopathy patient-derived biobank enables the study of disease-relevant cellular phenotypes across multiple pathogenic variants
Koczwara K, Lake N, Huang S, DeSimone A, Pajusalu S, Branford K, Hallak D, Woodman K, Xu J, Lek A, Best H, Habib A, Avelar J, Martin V, Mozaffar T, Shieh P, Weisleder N, Lek M. P154 The generation of a GNE myopathy patient-derived biobank enables the study of disease-relevant cellular phenotypes across multiple pathogenic variants. Neuromuscular Disorders 2023, 33: s138. DOI: 10.1016/j.nmd.2023.07.286.Peer-Reviewed Original ResearchPathogenic mutationsCRISPR/Cas9 knockoutDisease-relevant cell typesSialic acid biosynthesis pathwayCellular disease modelsMyogenic cell lineCell linesGNE myopathy patientsPatient-derived cell linesGNE activityWhole-genome sequencingGNE proteinPathogenic variantsBiosynthesis pathwayDisease-relevant cellular phenotypesCellular functionsMyogenic lineageCellular phenotypesRNA sequencingBifunctional enzymeGenome sequencingMultiple pathogenic variantsReduced enzymatic activitySkeletal muscle atrophyMyopathy patients
2018
Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations
Stutterd C, Lake N, Peters H, Lockhart P, Taft R, van der Knaap M, Vanderver A, Thorburn D, Simons C, Leventer R. Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations. JIMD Reports 2018, 43: 63-70. PMID: 29654549, PMCID: PMC6323033, DOI: 10.1007/8904_2018_100.Peer-Reviewed Original ResearchComplete clinical recoveryClinical recoveryClinical courseMRI abnormalitiesWhite matterTrio whole-genome sequencingBilateral T2 hyperintensitiesWhole-genome sequencingPatient's clinical courseDeep white matterFrontal white matterCompound heterozygous variantsRespiratory chain enzyme activitiesNovel disease-causing variantsCultured patient fibroblastsPatient fibroblastsMitochondrial respiratory chain enzyme activitiesAcute hemiplegiaT2 hyperintensityMultisystem diseaseSevere leukoencephalopathyDisease onsetGenetic leukoencephalopathiesNeurological regressionLactate levels