2017
Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity
Praschberger R, Lowe SA, Malintan NT, Giachello CNG, Patel N, Houlden H, Kullmann DM, Baines RA, Usowicz MM, Krishnakumar SS, Hodge JJL, Rothman JE, Jepson JEC. Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity. Cell Reports 2017, 21: 97-109. PMID: 28978487, PMCID: PMC5640804, DOI: 10.1016/j.celrep.2017.09.004.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDendritesDrosophila melanogasterFemaleFibroblastsGene ExpressionGenetic Association StudiesGolgi ApparatusHumansMaleMembrane FusionMutationMyoclonic Epilepsies, ProgressivePhenotypePrimary Cell CultureQb-SNARE ProteinsRecombinant ProteinsSaccharomyces cerevisiaeSaccharomyces cerevisiae ProteinsSecretory PathwaySynapsesYoung AdultConceptsMembrane fusionGolgi membrane fusionProgressive myoclonus epilepsyGenotype-phenotype relationshipsPresynaptic cytoskeletonEssential proteinsDrosophila modelMembrinMutationsPathogenic mutationsSynaptic functionProteinMyoclonus epilepsyExplanatory basisCytoskeletonGrowthSynaptic integrityPathway deficitsNervous systemMulti-layered strategySnareFusionFragmentation
2003
Active and Inactive Orientations of the Transmembrane and Cytosolic Domains of the Erythropoietin Receptor Dimer
Seubert N, Royer Y, Staerk J, Kubatzky KF, Moucadel V, Krishnakumar S, Smith SO, Constantinescu SN. Active and Inactive Orientations of the Transmembrane and Cytosolic Domains of the Erythropoietin Receptor Dimer. Molecular Cell 2003, 12: 1239-1250. PMID: 14636581, DOI: 10.1016/s1097-2765(03)00389-7.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsCell LineDimerizationDNA-Binding ProteinsEnzyme ActivationErythroid Precursor CellsErythropoietinJanus Kinase 2MiceMilk ProteinsModels, MolecularMolecular Sequence DataProtein Structure, QuaternaryProtein Structure, SecondaryProtein Structure, TertiaryProtein-Tyrosine KinasesProto-Oncogene ProteinsReceptors, ErythropoietinRecombinant Fusion ProteinsSaccharomyces cerevisiae ProteinsSequence AlignmentSignal TransductionSTAT3 Transcription FactorSTAT5 Transcription FactorTrans-ActivatorsTranscription FactorsTranscription, GeneticViral Envelope Proteins