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
2016
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder
Nafisinia M, Guo Y, Dang X, Li J, Chen Y, Zhang J, Lake N, Gold W, Riley L, Thorburn D, Keating B, Xu X, Hakonarson H, Christodoulou J. Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. JIMD Reports 2016, 32: 117-124. PMID: 27344648, PMCID: PMC5362551, DOI: 10.1007/8904_2016_541.Peer-Reviewed Original ResearchLeigh syndromeCompound heterozygous mutationsLate-onset Leigh syndromeWhole-exome sequencingWhole exome sequencing identifiesAmino acid substitution p.Putaminal abnormalitiesSpongiform lesionsCapillary proliferationMitochondrial respiratory chain functionLactate peakExome sequencing identifiesPatientsBrain tissuePatient muscleSyndromeBrain MRSHeterozygous mutationsExome sequencingPathogenic effectsProtein expressionRespiratory chain functionLaboratory evaluationSubstitution p.Significant reduction