2017
TRAK2, a novel regulator of ABCA1 expression, cholesterol efflux and HDL biogenesis
Lake N, Taylor R, Trahair H, Harikrishnan K, Curran J, Almeida M, Kulkarni H, Mukhamedova N, Hoang A, Low H, Murphy A, Johnson M, Dyer T, Mahaney M, Göring H, Moses E, Sviridov D, Blangero J, Jowett J, Bozaoglu K. TRAK2, a novel regulator of ABCA1 expression, cholesterol efflux and HDL biogenesis. European Heart Journal 2017, 38: 3579-3587. PMID: 28655204, PMCID: PMC6251650, DOI: 10.1093/eurheartj/ehx315.Peer-Reviewed Original ResearchConceptsNovel regulatorLiver X receptorHDL biogenesisCholesterol effluxTranscription of ABCA1ABCA1 expressionSan Antonio Family Heart StudyAbsence of ABCA1Novel associationsSiRNA-mediated knockdownTrafficking proteinsTranscriptomic dataABCA1 promoterMolecular basisTRAK2RegulatorKnockdownBiogenesisHuman macrophagesMember 1Protein expressionEfflux pathwayX receptorHDL metabolismFamily Heart Study
2015
Leigh syndrome: One disorder, more than 75 monogenic causes
Lake N, Compton A, Rahman S, Thorburn D. Leigh syndrome: One disorder, more than 75 monogenic causes. Annals Of Neurology 2015, 79: 190-203. PMID: 26506407, DOI: 10.1002/ana.24551.Peer-Reviewed Original ResearchLeigh Syndrome
Lake N, Bird M, Isohanni P, Paetau A. Leigh Syndrome. Journal Of Neuropathology & Experimental Neurology 2015, 74: 482-492. PMID: 25978847, DOI: 10.1097/nen.0000000000000195.Peer-Reviewed Original ResearchConceptsLeigh syndromeAnimal modelsHypoxic-ischemic encephalopathyBilateral symmetrical lesionsCommon pediatric presentationMolecular mechanismsSevere ATP depletionNeuronal preservationPediatric presentationProgressive encephalopathySymmetrical lesionsBasal gangliaCapillary proliferationCerebrospinal fluidUnique pathologyPathogenic mechanismsLesion developmentPatient samplesReactive oxygen speciesGliosisHyperlacticacidemiaEncephalopathyATP depletionSyndromePathology