2019
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation
Esteghamat F, Broughton JS, Smith E, Cardone R, Tyagi T, Guerra M, Szabó A, Ugwu N, Mani MV, Azari B, Kayingo G, Chung S, Fathzadeh M, Weiss E, Bender J, Mane S, Lifton RP, Adeniran A, Nathanson MH, Gorelick FS, Hwa J, Sahin-Tóth M, Belfort-DeAguiar R, Kibbey RG, Mani A. CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation. Nature Genetics 2019, 51: 1233-1243. PMID: 31358993, PMCID: PMC6675645, DOI: 10.1038/s41588-019-0470-3.Peer-Reviewed Original ResearchConceptsEarly-onset atherosclerosisMetabolic syndromeMetabolic syndrome traitsWhole-exome sequence analysisAttractive therapeutic targetPlatelet hyperactivationInsulin levelsPlasma insulinPlasma levelsInsulin sensitivityInsulin secretionTherapeutic targetPlatelet activationDisease mechanismsSyndrome traitsAtherosclerosisFunction mutationsSyndromeNovel lossInsulinMutationsSecretion
2011
Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6R611C increases PDGF-dependent vascular smooth muscle cell proliferation
Keramati AR, Singh R, Lin A, Faramarzi S, Ye ZJ, Mane S, Tellides G, Lifton RP, Mani A. Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6R611C increases PDGF-dependent vascular smooth muscle cell proliferation. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 1914-1918. PMID: 21245321, PMCID: PMC3033290, DOI: 10.1073/pnas.1019443108.Peer-Reviewed Original ResearchConceptsVascular smooth muscle cell proliferationSmooth muscle cell proliferationLDL receptor-related protein 6Muscle cell proliferationEarly atherosclerosisHuman atherosclerotic coronary arteriesCell proliferationAtherosclerotic coronary arteriesPDGF receptor βPDGF-dependent regulationCoronary arterySmooth muscleVSMC proliferationReceptor βSMC proliferationCell cycle activityAtherosclerosisKey mediatorCritical modulatorProtein 6PDGF SignalingDifferential effectsProliferationFurther investigationCell cycle