2019
Signal peptide peptidase‐like 2c impairs vesicular transport and cleaves SNARE proteins
Papadopoulou A, Müller S, Mentrup T, Shmueli M, Niemeyer J, Haug‐Kröper M, von Blume J, Mayerhofer A, Feederle R, Schröder B, Lichtenthaler S, Fluhrer R. Signal peptide peptidase‐like 2c impairs vesicular transport and cleaves SNARE proteins. EMBO Reports 2019, 20: embr201846451. PMID: 30733281, PMCID: PMC6399617, DOI: 10.15252/embr.201846451.Peer-Reviewed Original ResearchMeSH KeywordsAcrosomeAnimalsAspartic Acid EndopeptidasesBiocatalysisDown-RegulationGlycomicsGlycoproteinsGlycosyltransferasesGolgi ApparatusHEK293 CellsHumansMaleMembrane ProteinsMice, Inbred C57BLModels, BiologicalProtein TransportProteolysisSNARE ProteinsSpermatidsSubcellular FractionsSubstrate SpecificityConceptsSNARE proteinsCandidate substratesVesicular transportProcess of vesicular traffickingImpaired vesicular transportIntramembrane aspartyl proteaseCleave SNARE proteinsGxGD-typeAcrosome formationB cell developmentCargo proteinsVesicular traffickingAspartyl proteaseProtease familyCellular processesProtein glycosylationSubcellular compartmentsEndoplasmic reticulumProteolytic processingBiological processesAlzheimer's diseasePhysiological functionsProteinDevelopment of pathologyProtease
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