2025
Liver lipid droplet cholesterol content is a key determinant of metabolic dysfunction–associated steatohepatitis
Sakuma I, Gaspar R, Nasiri A, Dufour S, Kahn M, Zheng J, LaMoia T, Guerra M, Taki Y, Kawashima Y, Yimlamai D, Perelis M, Vatner D, Petersen K, Huttasch M, Knebel B, Kahl S, Roden M, Samuel V, Tanaka T, Shulman G. Liver lipid droplet cholesterol content is a key determinant of metabolic dysfunction–associated steatohepatitis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2502978122. PMID: 40310463, PMCID: PMC12067271, DOI: 10.1073/pnas.2502978122.Peer-Reviewed Original ResearchConceptsCholine-deficient l-amino acid-defined high-fat dietBempedoic acidLiver fibrosisLiver diseaseL-amino acid-defined high-fat dietAdvanced liver diseaseCholesterol contentHSD17B13 variantsHigh-fat dietTotal liver cholesterol contentTreated miceActivate signaling pathwaysVariant rs738409Liver cholesterol contentLiver lipidsFibrotic responsePromote inflammationTherapeutic approachesSteatotic liver diseaseDietary cholesterol supplementationFibrosisHuman liver samplesI148MAntisense oligonucleotidesProgressive form
2013
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy. Neuron 2013, 80: 429-441. PMID: 24139043, PMCID: PMC3820368, DOI: 10.1016/j.neuron.2013.08.013.Peer-Reviewed Original ResearchConceptsCongenital microcephalyProgressive cerebral atrophyStructural brain abnormalitiesCerebral atrophyNeuronal damageEnhanced excitabilityIntractable seizuresAsparagine depletionNeurological impairmentBrain abnormalitiesCortical thicknessLoss of functionASNS deficiencyProgressive formMutant micePatient phenotypesIntellectual disabilityASNS geneMicrocephalyMissense mutationsBrainDeficiencyAspartate/MutationsRecessive mutations
2005
HIV leucoencephalopathy and TNFα expression in neurones
Rostasy K, Monti L, Lipton S, Hedreen J, Gonzalez R, Navia B. HIV leucoencephalopathy and TNFα expression in neurones. Journal Of Neurology Neurosurgery & Psychiatry 2005, 76: 960. PMID: 15965202, PMCID: PMC1739718, DOI: 10.1136/jnnp.2004.036889.Peer-Reviewed Original ResearchMeSH KeywordsAdultAIDS Dementia ComplexAnti-Retroviral AgentsBasal GangliaBiopsyBrainDiffusion Magnetic Resonance ImagingDisease ProgressionFollow-Up StudiesFrontal LobeHIV Envelope Protein gp41HumansMacrophagesMaleMicrogliaMiddle AgedNeurologic ExaminationNeuronsNeuropsychological TestsSaquinavirStavudineTreatment OutcomeTumor Necrosis Factor-alphaZidovudineConceptsAIDS dementia complexPathogenesis of ADCImaging studiesMicroglia/macrophage activationProgressive formDeep white matter changesMicroglia/macrophagesExpression of TNFalphaWhite matter changesNecrosis factor alphaMeans of immunohistochemistryViral protein expressionNeuroradiological featuresAntiretroviral treatmentHIV infectionThird patientBrain biopsyProgressive dementiaDementia complexTreatment regimensBasal gangliaClinical historyFactor alphaTNFα expressionFrontal cortex
2000
Expression of macrophage migration inhibitory factor in human glomerulonephritis
Lan H, Yang N, Nikolic-Paterson D, Yu X, Mu W, Isbel N, Metz C, Bucala R, Atkins R. Expression of macrophage migration inhibitory factor in human glomerulonephritis. Kidney International 2000, 57: 499-509. PMID: 10652026, DOI: 10.1046/j.1523-1755.2000.00869.x.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overBiopsyCohort StudiesEpithelial CellsFemaleGene ExpressionGlomerulonephritis, MembranoproliferativeGlomerulonephritis, MembranousHumansIn Situ HybridizationKidney GlomerulusMacrophage Migration-Inhibitory FactorsMacrophagesMaleMiddle AgedReference ValuesRNA, MessengerT-LymphocytesConceptsMacrophage migration inhibitory factorMIF expressionMigration inhibitory factorFocal segmental glomerulosclerosisHuman glomerulonephritisProliferative formsMIF mRNAPathogenic roleExperimental glomerulonephritisInhibitory factorProgressive formRenal MIF expressionRenal function impairmentT cell accumulationT-cell infiltratesEpithelial cellsMinimal change diseaseFocal segmental lesionsGlomerular endothelial cellsTubular epithelial cellsNormal human kidneyAttractive therapeutic targetCreatinine clearanceGlomerular epithelial cellsLupus nephritis
1997
Modified total lymphoid irradiation and low dose corticosteroids in progressive multiple sclerosis
Cook S, Devereux C, Troiano R, Wolansky L, Guarnaccia J, Haffty B, Bansil S, Goldstein J, Sheffet A, Zito G, Jotkowitz A, Boos J, Dowling P, Rohowsky-Kochan C, Volmer T. Modified total lymphoid irradiation and low dose corticosteroids in progressive multiple sclerosis. Journal Of The Neurological Sciences 1997, 152: 172-181. PMID: 9415539, DOI: 10.1016/s0022-510x(97)00189-5.Peer-Reviewed Original ResearchConceptsTotal lymphoid irradiationMultiple sclerosisLymphoid irradiationDuration of MSExpanded Disability Status ScaleProgressive formKaplan-Meier product-limit survival analysisLow-dose corticosteroidsLow-dose prednisoneProgressive multiple sclerosisPrimary study endpointDisability Status ScaleProduct-limit survival analysisDose corticosteroidsDose prednisoneIntravenous methylprednisolonePrednisone therapyTLI groupTLI patientsSystemic immunosuppressionPatient ageStudy endpointStudy entrySham groupStatus Scale
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
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply