2020
The Daam2–VHL–Nedd4 axis governs developmental and regenerative oligodendrocyte differentiation
Ding X, Jo J, Wang C, Cristobal C, Zuo Z, Ye Q, Wirianto M, Lindeke-Myers A, Choi J, Mohila C, Kawabe H, Jung S, Bellen H, Yoo S, Lee H. The Daam2–VHL–Nedd4 axis governs developmental and regenerative oligodendrocyte differentiation. Genes & Development 2020, 34: 1177-1189. PMID: 32792353, PMCID: PMC7462057, DOI: 10.1101/gad.338046.120.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell DifferentiationGene Expression Regulation, DevelopmentalHumansMiceMice, KnockoutMicrofilament ProteinsMultiple SclerosisMyelin SheathNedd4 Ubiquitin Protein LigasesNerve RegenerationNervous System DiseasesOligodendrogliaProtein StabilityRho GTP-Binding ProteinsUbiquitinationVon Hippel-Lindau Tumor Suppressor ProteinConceptsWhite matter injuryUbiquitin-proteasomal systemGenetic knockout mouse modelsOligodendrocyte differentiationWhite matter lesionsKnockout mouse modelDemyelination modelMultiple sclerosisDisease-driving proteinsMatter lesionsOligodendrocyte dysfunctionPathogenic accumulationMouse modelDevelopmental myelinationNeurological disordersGlial biologyOligodendrocyte developmentE3 ligase VHLVHLRepairE3 ubiquitinProteomic analysisRemyelinationSclerosisPatients
2019
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction
Wang J, Rousseau J, Kim E, Ehresmann S, Cheng Y, Duraine L, Zuo Z, Park Y, Li-Kroeger D, Bi W, Wong L, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya F, Wierenga K, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen H, Campeau P. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. American Journal Of Human Genetics 2019, 105: 1237-1253. PMID: 31785787, PMCID: PMC6904826, DOI: 10.1016/j.ajhg.2019.11.002.Peer-Reviewed Original Research