2024
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Chelban V, Aksnes H, Maroofian R, LaMonica L, Seabra L, Siggervåg A, Devic P, Shamseldin H, Vandrovcova J, Murphy D, Richard A, Quenez O, Bonnevalle A, Zanetti M, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender L, Morsy H, Scardamaglia A, Tariq A, Pagnamenta A, Pennavaria A, Krogstad L, Bekkelund Å, Caiella A, Glomnes N, Brønstad K, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze J, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini J, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul S, Lochmuller H, Da’as S, Fakhro K, Gómez-Pascual A, Botía J, Wood N, Horvath R, Ernst A, Rothman J, McEntagart M, Crow Y, Alkuraya F, Nicolas G, Arnesen T, Houlden H. Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature Communications 2024, 15: 2269. PMID: 38480682, PMCID: PMC10937998, DOI: 10.1038/s41467-024-46354-0.Peer-Reviewed Original ResearchConceptsPrimary familial brain calcificationDisease-causing mechanismsLoss-of-functionReduced surface levelsTransmembrane proteinsNAA60Progressive movement disorderBiochemical explanationAcetylation capacityPhosphate uptakeGenesBrain calcificationVariantsProteinHeterogeneous disorderSLC20A2Neurobiological functionsSurface levelMovement disordersCalcium depositionCells
2023
Synaptophysin chaperones the assembly of 12 SNAREpins under each ready-release vesicle
Bera M, Radhakrishnan A, Coleman J, Sundaram R, Ramakrishnan S, Pincet F, Rothman J. Synaptophysin chaperones the assembly of 12 SNAREpins under each ready-release vesicle. Proceedings Of The National Academy Of Sciences Of The United States Of America 2023, 120: e2311484120. PMID: 37903271, PMCID: PMC10636311, DOI: 10.1073/pnas.2311484120.Peer-Reviewed Original ResearchConceptsSpecific molecular functionsSynaptic vesicle protein synaptophysinTarget membrane bilayerSensor synaptotagminSNARE proteinsMolecular functionsMembrane proteinsSNAREpinsReceptor vesiclesSingle-molecule measurementsGene knockoutMembrane bilayerLipid bilayersProtein synaptophysinVesiclesDetergent extractsHexamer structureSYPMechanism of actionProteinAssemblyChaperonesSynaptotagminExocytosisBilayers
2010
Induction of cortical endoplasmic reticulum by dimerization of a coatomer-binding peptide anchored to endoplasmic reticulum membranes
Lavieu G, Orci L, Shi L, Geiling M, Ravazzola M, Wieland F, Cosson P, Rothman JE. Induction of cortical endoplasmic reticulum by dimerization of a coatomer-binding peptide anchored to endoplasmic reticulum membranes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 6876-6881. PMID: 20351264, PMCID: PMC2872465, DOI: 10.1073/pnas.1002536107.Peer-Reviewed Original ResearchConceptsCortical endoplasmic reticulumMost animal cell typesEndoplasmic reticulumMicrotubule plus-end binding protein EB1Animal cell typesLysine-rich tailRNA interference experimentsEndoplasmic reticulum membraneCoatomer bindingSTIM proteinsMammalian cellsProtein EB1Transmembrane proteinC-terminal peptidePlasma membraneYeast cellsReticulum membraneCell typesPeptide bindsProteinPeptide sequencesIst2ReticulumInterference experimentsDimerizationA fast, single-vesicle fusion assay mimics physiological SNARE requirements
Karatekin E, Di Giovanni J, Iborra C, Coleman J, O'Shaughnessy B, Seagar M, Rothman JE. A fast, single-vesicle fusion assay mimics physiological SNARE requirements. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 3517-3521. PMID: 20133592, PMCID: PMC2840481, DOI: 10.1073/pnas.0914723107.Peer-Reviewed Original Research