2020
Seizure protein 6 controls glycosylation and trafficking of kainate receptor subunits GluK2 and GluK3
Pigoni M, Hsia H, Hartmann J, Rudan Njavro J, Shmueli MD, Müller SA, Güner G, Tüshaus J, Kuhn P, Kumar R, Gao P, Tran ML, Ramazanov B, Blank B, Hipgrave Ederveen A, Von Blume J, Mulle C, Gunnersen JM, Wuhrer M, Rammes G, Busche MA, Koeglsperger T, Lichtenthaler SF. Seizure protein 6 controls glycosylation and trafficking of kainate receptor subunits GluK2 and GluK3. The EMBO Journal 2020, 39: embj2019103457. PMID: 32567721, PMCID: PMC7396870, DOI: 10.15252/embj.2019103457.Peer-Reviewed Original ResearchConceptsPrimary neuronsCell surface localizationMolecular functionsKainate receptor subunit GluK2Trafficking factorsSecretory pathwayNovel functionHeterologous cellsMajor substrateSurface localizationProtein 6Alzheimer's diseaseCA1 pyramidal neuronsAcute hippocampal slicesProtease BACE1Kainate-evoked currentsGlycosylationGluK2/3Pyramidal neuronsGluK2Hippocampal slicesKainate receptorsPsychiatric disordersNervous systemPsychiatric diseases
2014
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
Boztug K, Järvinen PM, Salzer E, Racek T, Mönch S, Garncarz W, Gertz EM, Schäffer AA, Antonopoulos A, Haslam SM, Schieck L, Puchałka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, Conde CD, Albert MH, Welte K, Brandes G, Sherkat R, van der Werff ten Bosch J, Rezaei N, Etzioni A, Bellanné-Chantelot C, Superti-Furga G, Penninger JM, Bennett KL, von Blume J, Dell A, Donadieu J, Klein C. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nature Genetics 2014, 46: 1021-1027. PMID: 25129144, PMCID: PMC4829076, DOI: 10.1038/ng.3069.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultApoptosisCell DifferentiationCell SurvivalChildChild, PreschoolCongenital Bone Marrow Failure SyndromesFemaleGlycosylationHomeostasisHumansInfantInfant, NewbornMaleMembrane ProteinsMutationMyeloid CellsNeutropeniaNeutrophilsReceptors, Granulocyte Colony-Stimulating FactorSignal TransductionYoung Adult