Featured Publications
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome
Bruel A, Ganga A, Nosková L, Valenzuela I, Martinovic J, Duffourd Y, Zikánová M, Majer F, Kmoch S, Mohler M, Sun J, Sweeney L, Martínez-Gil N, Thauvin-Robinet C, Breslow D. Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome. Human Molecular Genetics 2023, 32: 2822-2831. PMID: 37384395, PMCID: PMC10481091, DOI: 10.1093/hmg/ddad109.Peer-Reviewed Original ResearchConceptsCilia assemblyCiliary membrane formationIntracellular ciliogenesis pathwayPrimary cilia assemblyBi-allelic missense variantsRab proteinsRab GTPaseCiliary proteinsSmall GTPaseNascent ciliaMother centriolePrimary ciliaC-terminusProtein productsPathogenic variantsRab34Cell typesFunctional impactMissense variantsGTPaseStrong lossCiliogenesisSignificant defectsGenesKey mediatorA CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies
Breslow DK, Hoogendoorn S, Kopp AR, Morgens DW, Vu BK, Kennedy MC, Han K, Li A, Hess GT, Bassik MC, Chen JK, Nachury MV. A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. Nature Genetics 2018, 50: 460-471. PMID: 29459677, PMCID: PMC5862771, DOI: 10.1038/s41588-018-0054-7.Peer-Reviewed Original ResearchConceptsFunctional genomic screensGenome-wide CRISPRCiliary functionHedgehog-responsive cellsCiliary signalingΕ-tubulinProtein complexesGenomic screenEmbryonic developmentGene disruptionPrimary ciliaΔ-tubulinNovel componentCiliopathiesCRISPRCiliary structureUnbiased toolHedgehogUnifying causeScreenGenesSignalingCiliaSystematic analysisPathwayOrm family proteins mediate sphingolipid homeostasis
Breslow DK, Collins SR, Bodenmiller B, Aebersold R, Simons K, Shevchenko A, Ejsing CS, Weissman JS. Orm family proteins mediate sphingolipid homeostasis. Nature 2010, 463: 1048-1053. PMID: 20182505, PMCID: PMC2877384, DOI: 10.1038/nature08787.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAsthmaCell LineConserved SequenceFatty Acids, MonounsaturatedHeLa CellsHomeostasisHumansMolecular Sequence DataMultigene FamilyMultiprotein ComplexesPhosphoric Monoester HydrolasesPhosphorylationProtein BindingSaccharomyces cerevisiaeSaccharomyces cerevisiae ProteinsSerine C-PalmitoyltransferaseSphingolipidsConceptsOrm proteinsSphingolipid homeostasisSphingolipid productionFunctional genomics approachSphingolipid metabolismGenomic approachesGene familyPhosphorylation sitesORM geneORMDL genesRate-limiting enzymeRegulatory pathwaysNegative regulatorGene expressionSphingolipid synthesisSerine palmitoyltransferaseEssential roleProteinCritical mediatorGenesHomeostasisStructural componentsMetabolismMisregulationSaccharomyces
2008
A comprehensive strategy enabling high-resolution functional analysis of the yeast genome
Breslow DK, Cameron DM, Collins SR, Schuldiner M, Stewart-Ornstein J, Newman HW, Braun S, Madhani HD, Krogan NJ, Weissman JS. A comprehensive strategy enabling high-resolution functional analysis of the yeast genome. Nature Methods 2008, 5: 711-718. PMID: 18622397, PMCID: PMC2756093, DOI: 10.1038/nmeth.1234.Peer-Reviewed Original ResearchConceptsGenetic interaction studiesEssential yeast genesChemical genetic screenHigh-resolution functional analysisGenetic screenYeast genesYeast genomeHypomorphic alleleSaccharomyces cerevisiaeFunctional analysisStrain collectionGrowth competitionInteraction studiesGenomeCerevisiaeGenesAllelesScreen