2021
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE. Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. American Journal Of Human Genetics 2021, 108: 722-738. PMID: 33798445, PMCID: PMC8059372, DOI: 10.1016/j.ajhg.2021.03.013.Peer-Reviewed Original ResearchConceptsPME genesProgressive myoclonus epilepsyWhole-exome sequencingPrevious genetic analysisGroup of genesVariety of proteinsPrevious disease associationsUnrelated individualsCopy number changesProtein glycosylationPathway genesEndosomal functionGenetic analysisDisease-causing variantsGenesLikely disease-causing variantsAdditional family membersGenetic heterogeneityHeterogeneous rare diseasesUnsolved casesDisease associationsNovel causeMyoclonus epilepsyHeterozygous variantsHomozygous variant
2009
The YTA7 gene is involved in the regulation of the isoprenoid pathway in the yeast Saccharomyces cerevisiae
Kuranda K, Grabinska K, Berges T, Karst F, Leberre V, Sokol S, François J, Palamarczyk G. The YTA7 gene is involved in the regulation of the isoprenoid pathway in the yeast Saccharomyces cerevisiae. FEMS Yeast Research 2009, 9: 381-390. PMID: 19416104, DOI: 10.1111/j.1567-1364.2009.00485.x.Peer-Reviewed Original ResearchConceptsIsoprenoid pathwayFPP synthaseTwo-hybrid screenMembrane-associated proteinsBiosynthesis of hemeIsoprenoid biosynthesisProtein partnersPresence of lovastatinYeast SaccharomycesN-glycosylationSterol biosynthesisSqualene synthaseCis-prenyltransferaseEndoplasmic reticulumIsoprenoid compoundsZaragozic acidsBiosynthesisCellular levelGenesEnzymatic activityExpression levelsSaccharomycesPathwaySynthaseRegulation
2008
Dolichyl-Phosphate-Glucose Is Used To Make O-Glycans on Glycoproteins of Trichomonas vaginalis▿ †
Grabińska K, Ghosh S, Guan Z, Cui J, Raetz C, Robbins P, Samuelson J. Dolichyl-Phosphate-Glucose Is Used To Make O-Glycans on Glycoproteins of Trichomonas vaginalis▿ †. MSphere 2008, 7: 1344-1351. PMID: 18552282, PMCID: PMC2519777, DOI: 10.1128/ec.00061-08.Peer-Reviewed Original ResearchConceptsDol-P-Man synthase activityO-glycansSynthase activityNumerous gene duplicationsSaccharomyces cerevisiae membranesDolichyl-P-mannose synthaseN-glycosylation defectGene duplicationHuge genomeDPM1 geneNumerous genesGlycosylation defectsDolichyl-PPGene productsRecombinant proteinsSugar donorIsoprene unitsEndogenous glycoproteinsGenesDolichyl phosphateMembraneGlycoproteinFirst demonstrationProtistsALG5
2005
Functional relationships between the Saccharomyces cerevisiae cis-prenyltransferases required for dolichol biosynthesis.
Grabińska K, Sosińska G, Orłowski J, Swiezewska E, Berges T, Karst F, Palamarczyk G. Functional relationships between the Saccharomyces cerevisiae cis-prenyltransferases required for dolichol biosynthesis. Acta Biochimica Polonica 2005, 52: 221-32. PMID: 15827619, DOI: 10.18388/abp.2005_3511.Peer-Reviewed Original ResearchConceptsEnzymatic activityCis-prenyltransferase activityLong-chain dolicholsYeast SaccharomycesShorter speciesRER2Dolichol biosynthesisLevels of mRNADiphosphate formationIsoprene unitsSRT1SaccharomycesOverexpressionDolichol contentGenesPreferential synthesisProteinFunctional relationshipMRNADPM1TranscriptionBiosynthesisFarnesylSpecies
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 ResearchConceptsWild-type yeastType yeastSaccharomyces cerevisiaeYeast Saccharomyces cerevisiaeEffects of farnesylSynthesis of dolicholSame genetic backgroundHand overexpressionErg mutantsFPP synthaseSqualene synthase activitySynthesis of polyprenolsExogenous FPPMevalonate pathwayMutantsGenetic backgroundYeastOverexpressionSynthase overexpressionSynthase activityCerevisiaeFarnesylGenesSynthasePolyprenols