2017
Transfer of pathogenic and nonpathogenic cytosolic proteins between spinal cord motor neurons in vivo in chimeric mice
Thomas EV, Fenton WA, McGrath J, Horwich AL. Transfer of pathogenic and nonpathogenic cytosolic proteins between spinal cord motor neurons in vivo in chimeric mice. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: e3139-e3148. PMID: 28348221, PMCID: PMC5393223, DOI: 10.1073/pnas.1701465114.Peer-Reviewed Original ResearchConceptsMotor neuronsChimeric miceSpinal cord motor neuronsCranial nerve motor nucleiDouble fluorescenceMammalian nervous systemMo of ageGray matter oligodendrocytesCytosolic proteinsExtraocular nucleiMotor nucleusSpinal cordNervous systemNeuronsMiceSuperoxide dismutase 1 proteinEight-cell embryosPathogenic proteinsOligodendrocytesDismutase 1 proteinThird chimeraChimeric progenyRecent studiesEGFP chimerasCells
1997
Chaperonin-Mediated Folding in the Eukaryotic Cytosol Proceeds through Rounds of Release of Native and Nonnative Forms
Farr G, Scharl E, Schumacher R, Sondek S, Horwich A. Chaperonin-Mediated Folding in the Eukaryotic Cytosol Proceeds through Rounds of Release of Native and Nonnative Forms. Cell 1997, 89: 927-937. PMID: 9200611, DOI: 10.1016/s0092-8674(00)80278-0.Peer-Reviewed Original ResearchConceptsRounds of releaseSubstrate proteinsNonnative formsNative formChaperonin-mediated foldingEukaryotic cytosolic chaperoninATP-dependent foldingIntact Xenopus oocytesCytosolic chaperoninBacterial chaperoninsEukaryotic cytosolChaperoninNative stateXenopus oocytesEssential roleSingle roundFoldingProteinActinTubulinOverall mechanismGroELTransducinCytosolSmall fraction
1993
Short‐term response to dietary therapy in molybdenum cofactor deficiency
Boles R, Ment L, Meyn M, Horwich A, Kratz L, Rinaldo P. Short‐term response to dietary therapy in molybdenum cofactor deficiency. Annals Of Neurology 1993, 34: 742-744. PMID: 7694543, DOI: 10.1002/ana.410340520.Peer-Reviewed Original ResearchConceptsMolybdenum cofactor deficiencyCofactor deficiencyShort-term clinical improvementDietary methionine restrictionUrinary sulphiteClinical relapseClinical improvementLaboratory featuresDietary therapySevere irritabilityLactic acidosisHead growthMethionine restrictionDevelopmental delayCysteine supplementationCommercial dipstickTherapyIrritabilityDeficiencyDevelopmental progressRelapseHypouricemiaAcidosisInfantsMicrocephaly
1991
Inherited Hepatic Enzyme Defects as Candidates for Liver-Directed Gene Therapy
Horwich A. Inherited Hepatic Enzyme Defects as Candidates for Liver-Directed Gene Therapy. Current Topics In Microbiology And Immunology 1991, 168: 185-200. PMID: 1893777, DOI: 10.1007/978-3-642-76015-0_9.Peer-Reviewed Original Research
1988
Trisomy 18 associated with ectopia cordis and occipital meningocele
Bick D, Markowitz R, Horwich A, Opitz J, Reynolds J. Trisomy 18 associated with ectopia cordis and occipital meningocele. American Journal Of Medical Genetics 1988, 30: 805-810. PMID: 3189399, DOI: 10.1002/ajmg.1320300313.Peer-Reviewed Original Research
1986
DNA analysis for ornithine transcarbamylase deficiency
Rozen R, Fox J, Hack A, Fenton W, Horwich A, Rosenberg L. DNA analysis for ornithine transcarbamylase deficiency. Journal Of Inherited Metabolic Disease 1986, 9: 49-57. PMID: 2878115, DOI: 10.1007/bf01800858.Peer-Reviewed Original Research
1985
Expression of amplified DNA sequences for ornithine transcarbamylase in HeLa cells: arginine residues may be required for mitochondrial import of enzyme precursor.
Horwich A, Fenton W, Firgaira F, Fox J, Kolansky D, Mellman I, Rosenberg L. Expression of amplified DNA sequences for ornithine transcarbamylase in HeLa cells: arginine residues may be required for mitochondrial import of enzyme precursor. Journal Of Cell Biology 1985, 100: 1515-1521. PMID: 3988798, PMCID: PMC2113848, DOI: 10.1083/jcb.100.5.1515.Peer-Reviewed Original ResearchConceptsMitochondrial importOTC precursorsHeLa cellsOrnithine transcarbamylaseArginine residuesMouse dihydrofolate reductaseNH2-terminal leader sequenceRate of importArginine analog canavanineViral regulatory elementsImmunoprecipitation of extractsMitochondrial localizationCDNA sequenceRegulatory elementsLeader sequenceDNA sequencesEnzyme precursorsMitochondrial enzymesCell extractsDihydrofolate reductaseEnzymatic activityBlot analysisNormal precursorsResiduesSubunitsLocalization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.
de Martinville B, Kunkel L, Bruns G, Morlé F, Koenig M, Mandel J, Horwich A, Latt S, Gusella J, Housman D. Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. American Journal Of Human Genetics 1985, 37: 235-49. PMID: 2984924, PMCID: PMC1684559.Peer-Reviewed Original ResearchConceptsX chromosomeHuman X chromosome short armSomatic cell hybrid linesMolecular markersShort armX chromosome short armHuman X chromosomeChromosome short armDNA sequence mapGene dosage studiesOrnithine transcarbamylase geneAbnormal X chromosomeDNA sequencesDNA fragmentsHybrid linesChromosomesSequence mapsMuscular dystrophyStructural rearrangementsHuman lymphoblastsBand Xp21Duchenne muscular dystrophyGenesLociXp21Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus
Rozen R, Fox J, Fenton W, Horwich A, Rosenberg L. Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus. Nature 1985, 313: 815-817. PMID: 2983225, DOI: 10.1038/313815a0.Peer-Reviewed Original Research
1984
Human Ornithine Transcarbamylase Locus Mapped to Band Xp21.1 Near the Duchenne Muscular Dystrophy Locus
Lindgren V, de Martinville B, Horwich A, Rosenberg L, Francke U. Human Ornithine Transcarbamylase Locus Mapped to Band Xp21.1 Near the Duchenne Muscular Dystrophy Locus. Science 1984, 226: 698-700. PMID: 6494904, DOI: 10.1126/science.6494904.Peer-Reviewed Original ResearchConceptsMitochondrial enzyme ornithine transcarbamylaseHuman ornithine transcarbamylase geneSitu hybridization experimentsOrnithine transcarbamylase geneGene mapsX chromosomeHybridization experimentsDuchenne muscular dystrophy locusShort armGenesX chromosome abnormalitiesMuscular dystrophyCell linesOrnithine transcarbamylaseLociChromosome abnormalitiesCarrier detectionChromosomesDuchenne muscular dystrophyXp21.1DNATranscarbamylaseProbeDystrophyOrnithine transcarbamylase deficiency
1978
A father and son with cholestasis and peripheral pulmonic stenosis A distinct form of intrahepatic cholestasis
Riely C, LaBrecque D, Ghent C, Horwich A, Klatskin G. A father and son with cholestasis and peripheral pulmonic stenosis A distinct form of intrahepatic cholestasis. The Journal Of Pediatrics 1978, 92: 406-411. PMID: 632979, DOI: 10.1016/s0022-3476(78)80428-4.Peer-Reviewed Original ResearchConceptsPeripheral pulmonic stenosisIntrahepatic cholestasisPulmonic stenosisBile acidsSerum bile acid levelsSyndrome of cholestasisBile acid levelsAbnormal bile acidsIndividual bile acidsBenign courseCholestasisProgressive formVertical transmissionAcid levelsGenetic etiologyStenosisSyndromeBiochemical featuresPrevious reportsDistinctive patternsPatientsEtiologyDisease