Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome (original) (raw)

• Splawski, I. et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119, 19–31 (2004).
  Article CAS Google Scholar
• Yarotskyy, V. et al. Roscovitine binds to novel L-channel (CaV1.2) sites that separately affect activation and inactivation. J. Biol. Chem. 285, 43–53 (2010).
  Article CAS Google Scholar
• Yarotskyy, V. & Elmslie, K.S. Roscovitine, a cyclin-dependent kinase inhibitor, affects several gating mechanisms to inhibit cardiac L-type (Ca(V)1.2) calcium channels. Br. J. Pharmacol. 152, 386–395 (2007).
  Article CAS PubMed Central Google Scholar
• Yarotskyy, V., Gao, G., Peterson, B.Z. & Elmslie, K.S. The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. J. Physiol. (Lond.) 587, 551–565 (2009).
  Article CAS Google Scholar
• Wang, K. et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459, 528–533 (2009).
  Article CAS PubMed Central Google Scholar
• Moskvina, V. et al. Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. Mol. Psychiatry 14, 252–260 (2009).
  Article CAS Google Scholar
• Nyegaard, M. et al. CACNA1C (rs1006737) is associated with schizophrenia. Mol. Psychiatry 15, 119–121 (2010).
  Article CAS Google Scholar
• Dolmetsch, R.E., Pajvani, U., Fife, K., Spotts, J.M. & Greenberg, M.E. Signaling to the nucleus by an L-type calcium channel-calmodulin complex through the MAP kinase pathway. Science 294, 333–339 (2001).
  Article CAS Google Scholar
• Barrett, C.F. & Tsien, R.W. The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels. Proc. Natl. Acad. Sci. USA 105, 2157–2162 (2008).
  Article CAS Google Scholar
• Takahashi, K. & Yamanaka, S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 126, 663–676 (2006).
  Article CAS Google Scholar
• Yu, J. et al. Induced pluripotent stem cell lines derived from human somatic cells. Science 318, 1917–1920 (2007).
  Article CAS Google Scholar
• Yazawa, M. et al. Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Nature 471, 230–234 (2011).
  Article CAS PubMed Central Google Scholar
• Zhang, S.C., Wernig, M., Duncan, I.D., Brustle, O. & Thomson, J.A. In vitro differentiation of transplantable neural precursors from human embryonic stem cells. Nat. Biotechnol. 19, 1129–1133 (2001).
  Article CAS Google Scholar
• Pankratz, M.T. et al. Directed neural differentiation of human embryonic stem cells via an obligated primitive anterior stage. Stem Cells 25, 1511–1520 (2007).
  Article CAS PubMed Central Google Scholar
• Li, X.J. et al. Coordination of sonic hedgehog and Wnt signaling determines ventral and dorsal telencephalic neuron types from human embryonic stem cells. Development 136, 4055–4063 (2009).
  Article CAS PubMed Central Google Scholar
• Warren, L., Bryder, D., Weissman, I.L. & Quake, S.R. Transcription factor profiling in individual hematopoietic progenitors by digital RT-PCR. Proc. Natl. Acad. Sci. USA 103, 17807–17812 (2006).
  Article CAS Google Scholar
• Flatz, L. et al. Single-cell gene-expression profiling reveals qualitatively distinct CD8 T cells elicited by different gene-based vaccines. Proc. Natl. Acad. Sci. USA 108, 5724–5729 (2011).
  Article CAS Google Scholar
• Garbelli, R. et al. Layer-specific genes reveal a rudimentary laminar pattern in human nodular heterotopia. Neurology 73, 746–753 (2009).
  Article CAS Google Scholar
• Saito, T. et al. Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression. Cereb. Cortex 21, 588–596 (2010).
  Article Google Scholar
• Alcamo, E.A. et al. Satb2 regulates callosal projection neuron identity in the developing cerebral cortex. Neuron 57, 364–377 (2008).
  Article CAS Google Scholar
• Britanova, O. et al. Satb2 is a postmitotic determinant for upper-layer neuron specification in the neocortex. Neuron 57, 378–392 (2008).
  Article CAS Google Scholar
• Leone, D.P., Srinivasan, K., Chen, B., Alcamo, E. & McConnell, S.K. The determination of projection neuron identity in the developing cerebral cortex. Curr. Opin. Neurobiol. 18, 28–35 (2008).
  Article CAS PubMed Central Google Scholar
• Pinto, D. et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466, 368–372 (2010).
  Article CAS PubMed Central Google Scholar
• Garbett, K. et al. Immune transcriptome alterations in the temporal cortex of subjects with autism. Neurobiol. Dis. 30, 303–311 (2008).
  Article CAS PubMed Central Google Scholar
• Ip, B.K., Bayatti, N., Howard, N.J., Lindsay, S. & Clowry, G.J. The corticofugal neuron-associated genes ROBO1, SRGAP1 and CTIP2 exhibit an anterior to posterior gradient of expression in early fetal human neocortex development. Cereb. Cortex 21, 1395–1407 (2011).
  Article Google Scholar
• Romano, G., Suon, S., Jin, H., Donaldson, A.E. & Iacovitti, L. Characterization of five evolutionary conserved regions of the human tyrosine hydroxylase (TH) promoter: implications for the engineering of a human TH minimal promoter assembled in a self-inactivating lentiviral vector system. J. Cell. Physiol. 204, 666–677 (2005).
  Article CAS PubMed Central Google Scholar
• Raghanti, M.A. et al. Species-specific distributions of tyrosine hydroxylase–immunoreactive neurons in the prefrontal cortex of anthropoid primates. Neuroscience 158, 1551–1559 (2009).
  Article CAS Google Scholar
• Dulcis, D. & Spitzer, N.C. Illumination controls differentiation of dopamine neurons regulating behaviour. Nature 456, 195–201 (2008).
  Article CAS PubMed Central Google Scholar
• Barttfeld, P. et al. A big-world network in ASD: dynamical connectivity analysis reflects a deficit in long-range connections and an excess of short-range connections. Neuropsychologia 49, 254–263 (2011).
  Article Google Scholar
• Geschwind, D.H. & Levitt, P. Autism spectrum disorders: developmental disconnection syndromes. Curr. Opin. Neurobiol. 17, 103–111 (2007).
  Article CAS Google Scholar
• Casanova, M.F. et al. Reduced gyral window and corpus callosum size in autism: possible macroscopic correlates of a minicolumnopathy. J. Autism Dev. Disord. 39, 751–764 (2009).
  Article PubMed Central Google Scholar
• D'Souza, A., Onem, E., Patel, P., La Gamma, E.F. & Nankova, B.B. Valproic acid regulates catecholaminergic pathways by concentration-dependent threshold effects on TH mRNA synthesis and degradation. Brain Res. 1247, 1–10 (2009).
  Article CAS Google Scholar
• Toru, M., Nishikawa, T., Mataga, N. & Takashima, M. Dopamine metabolism increases in post-mortem schizophrenic basal ganglia. J. Neural Transm. 54, 181–191 (1982).
  Article CAS Google Scholar
• Elkabetz, Y. et al. Human ES cell-derived neural rosettes reveal a functionally distinct early neural stem cell stage. Genes Dev. 22, 152–165 (2008).
  Article CAS PubMed Central Google Scholar
• Tole, S. & Patterson, P.H. Regionalization of the developing forebrain: a comparison of FORSE-1, Dlx-2, and BF-1. J. Neurosci. 15, 970–980 (1995).
  Article CAS Google Scholar
• Du, P., Kibbe, W.A. & Lin, S.M. lumi: a pipeline for processing Illumina microarray. Bioinformatics 24, 1547–1548 (2008).
  Article CAS Google Scholar
• Coppola, G. et al. Gene expression study on peripheral blood identifies progranulin mutations. Ann. Neurol. 64, 92–96 (2008).
  Article CAS PubMed Central Google Scholar