2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. Brain 2021, 145: 208-223. PMID: 34382076, PMCID: PMC8967098, DOI: 10.1093/brain/awab299.Peer-Reviewed Original ResearchMeSH KeywordsAlkyl and Aryl TransferasesChildDolicholsHumansMyoclonusNeurodegenerative DiseasesRetinitis PigmentosaConceptsRetinitis pigmentosaNeurodegenerative disordersMovement disordersDe novo pathogenic variantsHypokinetic movement disordersCongenital disorderLong-term outcomesNeurodevelopmental disordersNovo pathogenic variantsNeuronal ceroid lipofuscinosisProgressive myoclonus epilepsyDisease courseNeurological declineClinical featuresProgressive encephalopathyPsychiatric disturbancesMyelinated fibersLarge cohortCortical tremorCognitive deteriorationDisease-causing variantsEndosomal-lysosomal pathwayAutosomal recessive formPathogenic variantsAltered lysosomes
2020
Structural elucidation of the cis-prenyltransferase NgBR/DHDDS complex reveals insights in regulation of protein glycosylation
Edani BH, Grabińska KA, Zhang R, Park EJ, Siciliano B, Surmacz L, Ha Y, Sessa WC. Structural elucidation of the cis-prenyltransferase NgBR/DHDDS complex reveals insights in regulation of protein glycosylation. Proceedings Of The National Academy Of Sciences Of The United States Of America 2020, 117: 20794-20802. PMID: 32817466, PMCID: PMC7456142, DOI: 10.1073/pnas.2008381117.Peer-Reviewed Original ResearchConceptsActive site tunnelProtein glycosylationAtomic resolution structuresGlycosyl carrier lipidsΑ3 helixEnzyme active sitePTase activityResolution structureActive siteEndoplasmic reticulumHomodimeric formCarrier lipidRate-limiting stepGlycosylationCrystal structureDHDDSStructural elucidationPTaseIsoprene chainPrenyltransferaseUnique insightsComplexesUnfavorable stateNgBRHomodimeric
2017
Long-Chain Polyprenols Promote Spore Wall Formation in Saccharomyces cerevisiae
Hoffmann R, Grabińska K, Guan Z, Sessa WC, Neiman AM. Long-Chain Polyprenols Promote Spore Wall Formation in Saccharomyces cerevisiae. Genetics 2017, 207: 1371-1386. PMID: 28978675, PMCID: PMC5714454, DOI: 10.1534/genetics.117.300322.Peer-Reviewed Original ResearchConceptsLong-chain polyprenolsSpore wallSynthesis of chitinSpore wall layerHaploid genomeCellular processesProtein glycosylationPrenyltransferase activitySporulating cellsWall formationDityrosine layerIsoprenoid lipidsChitin synthaseEndoplasmic reticulumVegetative cellsSRT1Lipid dropletsDividing cellsEssential precursorPrimary enzymeImportant functionsSaccharomycesPolyprenolsDolicholSugar carrierA conserved C-terminal RXG motif in the NgBR subunit of cis-prenyltransferase is critical for prenyltransferase activity
Grabińska KA, Edani BH, Park EJ, Kraehling JR, Sessa WC. A conserved C-terminal RXG motif in the NgBR subunit of cis-prenyltransferase is critical for prenyltransferase activity. Journal Of Biological Chemistry 2017, 292: 17351-17361. PMID: 28842490, PMCID: PMC5655512, DOI: 10.1074/jbc.m117.806034.Peer-Reviewed Original ResearchMeSH KeywordsAlkyl and Aryl TransferasesAmino Acid MotifsBacterial ProteinsDimethylallyltranstransferaseFungal ProteinsHumansPlant ProteinsReceptors, Cell SurfaceTransferasesConceptsUndecaprenyl diphosphate synthaseDiphosphate synthaseDomains of lifeProtein glycosylation reactionsStrong conservationCellular functionsG motifTerminal tailPrenyltransferase activityFirst enzymeCis-prenyltransferaseBacterial enzymesIsoprene unitsSubunitsLarge familyNgBREnzyme activityG sequencesEnzymeDolichyl phosphateMotifSynthaseEukaryotesOrthologsArchaea
2002
Dolichol biosynthesis in the yeast Saccharomyces cerevisiae: an insight into the regulatory role of farnesyl diphosphate synthase
Grabińska K, Palamarczyk G. Dolichol biosynthesis in the yeast Saccharomyces cerevisiae: an insight into the regulatory role of farnesyl diphosphate synthase. FEMS Yeast Research 2002, 2: 259-265. PMID: 12702274, DOI: 10.1016/s1567-1356(02)00110-1.Peer-Reviewed Original ResearchMeSH KeywordsAlkyl and Aryl TransferasesDolicholsGene Expression Regulation, FungalGeranyltranstransferaseSaccharomyces cerevisiaeConceptsFarnesyl diphosphateDolichol biosynthesisMevalonate pathwayOverexpression of farnesyl diphosphate synthaseYeast Saccharomyces cerevisiaeAAA ATPase familyFarnesyl diphosphate synthaseDerivatives of mevalonic acidDiphosphate synthaseProtein glycosylationATPase familyIsoprenoid lipidsRegulatory enzymeMevalonic acidMevalonateRegulatory roleBiosynthesisDolicholYeastPathwayProteinEnzymeYta7FarnesylationTranscriptionDolichol biosynthesis in the yeast Saccharomyces cerevisiae: an insight into the regulatory role of farnesyl diphosphate synthase
Grabińska K, Palamarczyk G. Dolichol biosynthesis in the yeast Saccharomyces cerevisiae: an insight into the regulatory role of farnesyl diphosphate synthase. FEMS Yeast Research 2002, 2: 259-265. DOI: 10.1111/j.1567-1364.2002.tb00093.x.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMeSH KeywordsAlkyl and Aryl TransferasesDolicholsGene Expression Regulation, FungalGeranyltranstransferaseSaccharomyces cerevisiaeConceptsDolichol biosynthesisMevalonate pathwayYeast Saccharomyces cerevisiaeTranscription of genesAAA ATPase familyNon-sterol derivativesEffects of overexpressionATPase familyNon-sterol compoundsProtein glycosylationSaccharomyces cerevisiaeFirst enzymeIsoprenoid lipidsRegulatory enzymeRegulatory roleEffects of FPPBiosynthesisFarnesylCoA reductaseMevalonic acidPathwayEnzymeSynthaseFPPPresent reviewThe isoprenoid biosynthetic pathway in Saccharomyces cerevisiae is affected in a maf1-1 mutant with altered tRNA synthesis
Kamińska J, Grabińska K, Kwapisz M, Sikora J, Smagowicz W, Palamarczyk G, Żołądek T, Boguta M. The isoprenoid biosynthetic pathway in Saccharomyces cerevisiae is affected in a maf1-1 mutant with altered tRNA synthesis. FEMS Yeast Research 2002, 2: 31-37. PMID: 12702319, DOI: 10.1111/j.1567-1364.2002.tb00066.x.Peer-Reviewed Original ResearchConceptsIsoprenoid pathwayIsoprenoid biosynthetic pathwayCellular tRNA levelsTRNA synthesisTRNA biosynthesisTRNA levelsSaccharomyces cerevisiaeBiosynthetic pathwayComplex regulationIsopentenyltransferaseProtein levelsMutantsErgosterol contentBiosynthesisPathwayIsopentenylationCerevisiaeSaccharomycesYeastTranscriptsRegulationExpressionDirect effectCells
1997
Polyprenol formation in the yeast Saccharomyces cerevisiae: effect of farnesyl diphosphate synthase overexpression
Szkopińska A, Grabińska K, Delourme D, Karst F, Rytka J, Palamarczyk G. Polyprenol formation in the yeast Saccharomyces cerevisiae: effect of farnesyl diphosphate synthase overexpression. Journal Of Lipid Research 1997, 38: 962-968. PMID: 9186913, DOI: 10.1016/s0022-2275(20)37220-5.Peer-Reviewed Original ResearchMeSH KeywordsAlkyl and Aryl TransferasesChromatography, High Pressure LiquidDolicholsGene Expression Regulation, FungalGeranyltranstransferaseSaccharomyces cerevisiaeTransferasesConceptsWild-type yeastType yeastSaccharomyces cerevisiaeYeast Saccharomyces cerevisiaeEffects of farnesylSynthesis of dolicholSame genetic backgroundHand overexpressionErg mutantsFPP synthaseSqualene synthase activitySynthesis of polyprenolsExogenous FPPMevalonate pathwayMutantsGenetic backgroundYeastOverexpressionSynthase overexpressionSynthase activityCerevisiaeFarnesylGenesSynthasePolyprenols