2019
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia
Gallagher PG, Maksimova Y, Lezon-Geyda K, Newburger PE, Medeiros D, Hanson RD, Rothman J, Israels S, Wall DA, Sidonio RF, Sieff C, Gowans LK, Mittal N, Rivera-Santiago R, Speicher DW, Baserga SJ, Schulz VP. Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia. Journal Of Clinical Investigation 2019, 129: 2878-2887. PMID: 31038472, PMCID: PMC6597203, DOI: 10.1172/jci127195.Peer-Reviewed Original ResearchConceptsRecessive hereditary spherocytosisSplice acceptor siteHuman genetic diseasesMRNA stability studiesAberrant splicing contributesSplicing contributesWhole-genome sequencingSplicing analysisHereditary pyropoikilocytosisTermination codonNull allelesGenome sequencingWhole-exome sequencingBranch pointsNumerous mutationsGenetic diseasesLinkage disequilibriumMRNA transcriptsΑ-spectrinMinigene studiesAcceptor sitesMutationsExome sequencingNew targets
2016
Fluorescence Amplification Method for Forward Genetic Discovery of Factors in Human mRNA Degradation
Alexandrov A, Shu MD, Steitz JA. Fluorescence Amplification Method for Forward Genetic Discovery of Factors in Human mRNA Degradation. Molecular Cell 2016, 65: 191-201. PMID: 28017590, PMCID: PMC5301997, DOI: 10.1016/j.molcel.2016.11.032.Peer-Reviewed Original ResearchConceptsNonsense-mediated decayPremature termination codonNMD factorsNMD pathwayMRNA degradationHuman cellsForward genetic screeningGenetic screen identifiesHuman genetic diseasesHuman candidate genesNonsense suppression therapyModel organismsGenetic screeningScreen identifiesTermination codonCandidate genesGenetic discoveriesReporter fluorescenceGenetic diseasesPathwayAdditional key factorsCellsCRISPRCodonHomologyWhen Good Ribosomes Go Bad
Baserga S, McCann K, Teramoto T, Zhang J, Tanaka Hall T. When Good Ribosomes Go Bad. The FASEB Journal 2016, 30 DOI: 10.1096/fasebj.30.1_supplement.387.1.Peer-Reviewed Original ResearchProtein-protein interactionsRNA recognition motifANE syndromeRibosome biogenesisRRNA processingProtein functionMolecular basisPre-rRNA processing defectThird RNA recognition motifDefective protein foldingHuman genetic diseasesFull-length proteinSingle amino acid substitutionNumerous human disordersAmino acid substitutionsYeast orthologMature ribosomesEukaryotic cellsGood ribosomeRibosome synthesisHub proteinsNucleolar proteinsNucleolar functionDomain foldingNucleolar dysfunction
2009
Chemical modifier screen identifies HDAC inhibitors as suppressors of PKD models
Cao Y, Semanchik N, Lee SH, Somlo S, Barbano PE, Coifman R, Sun Z. Chemical modifier screen identifies HDAC inhibitors as suppressors of PKD models. Proceedings Of The National Academy Of Sciences Of The United States Of America 2009, 106: 21819-21824. PMID: 19966229, PMCID: PMC2799791, DOI: 10.1073/pnas.0911987106.Peer-Reviewed Original ResearchConceptsKidney cyst formationCommon human genetic diseasesLarge-scale high-throughput screensHDAC inhibitorsBody curvatureChemical modifier screensHuman genetic diseasesPolycystic kidney diseaseHigh-throughput screenModifier screenSpecific HDAC inhibitorsCyst formationClass I HDACsCausal genesKnockdown animalsCiliary signalsPKD pathogenesisPan-HDAC inhibitorsPKD modelLaterality defectsGenetic diseasesPKD treatmentZebrafishAutosomal dominant polycystic kidney diseaseDrug candidatesDysfunctions of the diffusional membrane pathways mediated by hemichannels in inherited and acquired human diseases.
Schalper K, Orellana J, Berthoud V, Sáez J. Dysfunctions of the diffusional membrane pathways mediated by hemichannels in inherited and acquired human diseases. Current Vascular Pharmacology 2009, 7: 486-505. PMID: 19485891, DOI: 10.2174/157016109789043937.Peer-Reviewed Original ResearchConceptsHuman genetic diseasesNormal cell functioningHemichannel activityMost cell typesConnexin mutantsForm homoTransmembrane proteinMembrane permeabilizationPlasma membraneLethal stimuliMembrane pathwaysCell functioningHuman diseasesCell deathCell typesGenetic diseasesMost cellsHemichannelsPannexinsSmall moleculesConnexinsTransportersPathological conditionsPathwayVertebrates
2006
Regulating Secretory Lysosomes
Holt O, Gallo F, Griffiths G. Regulating Secretory Lysosomes. The Journal Of Biochemistry 2006, 140: 7-12. PMID: 16877763, DOI: 10.1093/jb/mvj126.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Protein Complex 3Alkyl and Aryl TransferasesAnimalsChediak-Higashi SyndromeHermanski-Pudlak SyndromeHumansLysosomesMembrane FusionMembrane ProteinsNerve Tissue Proteinsrab GTP-Binding Proteinsrab27 GTP-Binding ProteinsSNARE ProteinsT-Lymphocytes, CytotoxicVesicular Transport Proteins
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