2018
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development
Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvath TL, Sestan N. The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development. Cell 2018, 175: 1088-1104.e23. PMID: 30318146, PMCID: PMC6459420, DOI: 10.1016/j.cell.2018.09.014.Peer-Reviewed Original ResearchConceptsCopy number variationsATP synthase dimersOxidative phosphorylation supercomplexesHuman neurodevelopmental disordersATP synthaseWS pathogenesisGene contributionMitochondrial featuresBrain developmentWilliams syndromeMitochondrial dysfunctionNeocortical pyramidal neuronsNeural phenotypesMitochondriaPyramidal neuronsMachineryMorphological featuresNeurodevelopmental disordersDysfunctionSupercomplexesPhenotype
2017
Maternal smoking and autism spectrum disorder: meta-analysis with population smoking metrics as moderators
Jung Y, Lee AM, McKee SA, Picciotto MR. Maternal smoking and autism spectrum disorder: meta-analysis with population smoking metrics as moderators. Scientific Reports 2017, 7: 4315. PMID: 28659613, PMCID: PMC5489536, DOI: 10.1038/s41598-017-04413-1.Peer-Reviewed Original ResearchConceptsMale smoking prevalenceMaternal smokingNicotine exposureSmoking prevalenceAdult male smoking prevalenceSignificant associationPostnatal nicotine exposureUtero nicotine exposureAutism spectrum disorderRandom-effects modelWorld Health Organization dataMeta-regression analysisSmoking metricsSmoke exposureSecondhand smokingPooled ORsObservational studySpectrum disorderSmokingBrain developmentControl participantsPrevalenceASD riskExposureAssociation