Human stem cell models of dementia

Human Molecular Genetics

Volumn 23, Issue R1, 2014, Pages

  Livesey, Frederick J ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALZHEIMER DISEASE; BIOLOGICAL MODEL; CYTOLOGY; FOREBRAIN; GENETICS; HUMAN; INDUCED PLURIPOTENT STEM CELL; NERVE CELL; STEM CELL TRANSPLANTATION;

ALZHEIMER DISEASE; HUMANS; INDUCED PLURIPOTENT STEM CELLS; MODELS, GENETIC; MODELS, NEUROLOGICAL; NEURONS; PROSENCEPHALON; STEM CELL TRANSPLANTATION;

EID: 84906828514     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu302     Document Type: Article

References (46)

1. Götz, J. and Ittner, L.M. (2008) Animal models of Alzheimer's disease and frontotemporal dementia. Nat. Rev. Neurosci., 9, 532-544.
2. Williams, L.A., Davis-Dusenbery, B.N. and Eggan, K.C. (2012) SnapShot: directed differentiation of pluripotent stem cells. Cell, 149, 1174-1174.e1.
3. Shi, Y., Kirwan, P. and Livesey, F.J. (2012) Directed differentiation of humanpluripotent stem cells to cerebral cortex neurons and neural networks. Nat. Protoc., 7, 1836-1846.
4. Shi, Y., Kirwan, P., Smith, J., Robinson, H.P.C. and Livesey, F.J. (2012) Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses. Nat. Neurosci., 15, 477-486.
5. Yu, D.X., Di Giorgio, F.P., Yao, J., Marchetto, M.C., Brennand, K., Wright, R., Mei, A., McHenry, L., Lisuk, D., Grasmick, J.M. et al. (2014) Modeling hippocampal neurogenesis using human pluripotent stem cells. Stem Cell Reports, 2, 295-310.
6. Ang, C.E. and Wernig, M. (2014) Induced neuronal reprogramming. J. Comp. Neurol., doi:10.1002/cne.23620.
7. Qiang, L., Fujita, R., Yamashita, T., Angulo, S., Rhinn, H., Rhee, D., Doege, C., Chau, L., Aubry, L., Vanti, W.B. et al. (2011) Directed conversion of Alzheimer's disease patient skin fibroblasts into functional neurons. Cell, 146, 359-371.
8. Zhang, Y., Pak, C., Han, Y., Ahlenius, H., Zhang, Z., Chanda, S., Marro, S., Patzke, C., Acuna, C., Covy, J. et al. (2013) Rapid single-step induction of functional neurons from human pluripotent stem cells. Neuron, 78, 785-798.
9. Weick, J.P., Liu, Y. and Zhang, S.-C. (2011) Human embryonic stem cell-derived neurons adopt and regulate the activity of an established neural network. Proc. Natl. Acad. Sci. USA, 108, 20189-20194.
10. Lancaster, M.A., Renner, M., Martin, C.-A., Wenzel, D., Bicknell, L.S., Hurles, M.E., Homfray, T., Penninger, J.M., Jackson, A.P. and Knoblich, J.A. (2013) Cerebral organoids model human brain development and microcephaly. Nature, 501, 373-379.
11. Kadoshima, T., Sakaguchi, H., Nakano, T., Soen, M., Ando, S., Eiraku, M. and Sasai, Y. (2013) Self-organization of axial polarity, inside-out layer pattern, and species-specific progenitor dynamics in human ES cell-derived neocortex. Proc. Natl. Acad. Sci. USA, 110, 20284-20289.
12. Williams, S.C.P. and Deisseroth, K. (2013) Optogenetics. Proc. Natl. Acad. Sci. USA, 110, 16287.
13. Hsu, P.D., Lander, E.S. and Zhang, F. (2014) Development and applications of CRISPR-Cas9 for genome engineering. Cell, 157, 1262-1278.
14. Tanzi, R.E. (2012) The genetics of Alzheimer disease. Cold Spring Harb. Perspect. Med., 2, a006296.
15. Bertram, L. and Tanzi, R.E. (2008) Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses. Nat. Rev. Neurosci., 9, 768-778.
16. Rovelet-Lecrux, A., Hannequin, D., Raux, G., Le Meur, N., Laquerrière, A., Vital, A., Dumanchin, C., Feuillette, S., Brice, A., Vercelletto, M. et al. (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat. Genet., 38, 24-26.
17. Rumble,B., Retallack, R., Hilbich, C., Simms,G., Multhaup, G., Martins, R., Hockey, A., Montgomery, P., Beyreuther, K. and Masters, C.L. (1989) AmyloidA4 protein and its precursor in Down's syndrome and Alzheimer's disease. N. Engl. J. Med., 320, 1446-1452.
18. Yagi, T., Ito, D., Okada, Y., Akamatsu, W., Nihei, Y., Yoshizaki, T., Yamanaka, S., Okano, H. and Suzuki, N. (2011) Modeling familial Alzheimer's disease with induced pluripotent stem cells. Hum. Mol. Genet., 20, 4530-4539.
19. Sproul, A.A., Jacob, S., Pre, D., Kim, S.H., Nestor, M.W., Navarro-Sobrino, M., Santa-Maria, I., Zimmer, M., Aubry, S., Steele, J.W. et al. (2014) Characterization and molecular profiling of PSEN1 familial Alzheimer's disease iPSC-derived neural progenitors. PLoS ONE, 9, e84547.
20. Woodruff, G., Young, J.E., Martinez, F.J., Buen, F., Gore, A., Kinaga, J., Li, Z., Yuan, S.H., Zhang, K. and Goldstein, L.S.B. (2013) The presenilin-1DE9 mutation results in reduced g-secretase activity, but not total loss of PS1 function, in isogenic human stem cells. Cell Rep., 5, 974-985.
21. Israel, M.A., Yuan, S.H., Bardy, C., Reyna, S.M., Mu, Y., Herrera, C., Hefferan, M.P., Van Gorp, S., Nazor, K.L., Boscolo, F.S. et al. (2012) Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells. Nature, 482, 216-220.
22. Selkoe, D.J. (1996) Amyloid beta-protein and the genetics of Alzheimer's disease. J. Biol. Chem., 271, 18295-18298.
23. Shi, Y., Kirwan, P., Smith, J., MacLean, G., Orkin, S.H. and Livesey, F.J. (2012) A human stem cell model of early Alzheimer's disease pathology in Down syndrome. Sci. Transl. Med., 4, 124ra29.
24. Kondo, T., Asai, M., Tsukita, K., Kutoku, Y., Ohsawa, Y., Sunada, Y., Imamura, K., Egawa, N., Yahata, N., Okita, K. et al. (2013) Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular Aβ and differential drug responsiveness. Cell Stem Cell, 12, 487-496.
25. Muratore, C.R., Rice, H.C., Srikanth, P., Callahan, D.G., Shin, T., Benjamin, L.N.P., Walsh, D.M., Selkoe, D.J. and Young-Pearse, T.L. (2014) The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons. Hum. Mol. Genet., 23, 3523-3536.
26. Hardy, J. and Allsop, D. (1991) Amyloiddeposition as the central event in the aetiology of Alzheimer's disease. Trends Pharmacol. Sci., 12, 383-388.
27. Hardy, J. and Selkoe, D.J. (2002) The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science, 297, 353-356.
28. Goedert, M. (1996) Tau protein and the neurofibrillary pathology of Alzheimer's disease. Ann. N. Y. Acad. Sci., 777, 121-131.
29. Ballatore, C., Lee, V.M.-Y. and Trojanowski, J.Q. (2007) Tau-mediated neurodegeneration in Alzheimer's disease and related disorders. Nat. Rev. Neurosci., 8, 663-672.
30. Hollingworth, P., Harold, D., Jones, L., Owen, M.J. and Williams, J. (2011) Alzheimer's disease genetics: current knowledge and future challenges. Int. J. Geriatr. Psychiatry, 26, 793-802.
31. Guerreiro, R.J. and Hardy, J. (2011) Alzheimer's disease genetics: lessons to improve disease modelling. Biochemical Society Transactions, 39, 910-916.
32. Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J.S.K., Younkin, S. et al. (2012) TREM2 variants in Alzheimer's disease. N. Engl. J. Med., 368:117-127.
33. Jonsson, T., Stefansson, H., Ph D, S.S., Jonsdottir, I., Jonsson, P.V., Snaedal, J., Bjornsson, S., Huttenlocher, J., Levey, A.I., Lah, J.J. et al. (2012) Variant of TREM2 associated with the risk of Alzheimer's disease. N. Engl. J. Med., 368:107-116.
34. Jonsson, T., Atwal, J.K., Steinberg, S., Snaedal, J., Jonsson, P.V., Bjornsson, S., Stefansson, H., Sulem, P., Gudbjartsson, D., Maloney, J. et al. (2012) A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature, 488, 96-99.
35. Beutner, C., Roy, K., Linnartz, B., Napoli, I. and Neumann, H. (2010) Generation of microglial cells from mouse embryonic stem cells. Nat. Protoc., 5, 1481-1494.
36. Fong, H., Wang, C., Knoferle, J., Walker, D., Balestra, M.E., Tong, L.M., Leung, L., Ring, K.L., Seeley, W.W., Karydas, A. et al. (2013) Genetic correction of tauopathy phenotypes in neurons derived from human induced pluripotent stem cells. Stem Cell Reports, 1, 226-234.
37. Donnelly, C.J., Zhang, P.-W., Pham, J.T., Heusler, A.R., Mistry, N.A., Vidensky, S., Daley, E.L., Poth, E.M., Hoover, B., Fines, D.M. et al. (2013) RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron, 80, 415-428.
38. Almeida, S., Zhang, Z., Coppola, G., Mao, W., Futai, K., Karydas, A., Geschwind, M.D., Tartaglia, M.C., Gao, F., Gianni, D. et al. (2012) Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects. Cell Rep., 2, 789-798.
39. Zu, T., Liu, Y., Bañez-Coronel, M., Reid, T., Pletnikova, O., Lewis, J., Miller, T.M., Harms, M.B., Falchook, A.E., Subramony, S.H. et al. (2013) RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc. Natl. Acad. Sci. USA, 110, E4968-E4977.
40. Almeida, S., Gascon, E., Tran, H., Chou, H.J., Gendron, T.F., Degroot, S., Tapper, A.R., Sellier, C., Charlet-Berguerand, N., Karydas, A. et al. (2013) Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol., 126, 385-399.
41. Maroof, A.M., Keros, S., Tyson, J.A., Ying, S.-W., Ganat, Y.M., Merkle, F.T., Liu, B., Goulburn, A., Stanley, E.G., Elefanty, A.G. et al. (2013) Directed differentiation and functional maturation of cortical interneurons from human embryonic stem cells. Cell Stem Cell, 12, 559-572.
42. Nicholas, C.R., Chen, J., Tang, Y., Southwell, D.G., Chalmers, N., Vogt, D., Arnold, C.M., Chen, Y.-J.J., Stanley, E.G., Elefanty, A.G. et al. (2013) Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development. Cell Stem Cell, 12, 573-586.
43. Chambers, S.M., Qi, Y., Mica, Y., Lee, G., Zhang, X.-J., Niu, L., Bilsland, J., Cao, L., Stevens, E., Whiting, P. et al. (2012) Combined small-molecule inhibition accelerates developmental timing and convertshumanpluripotent stem cells into nociceptors. Nat. Biotechnol., 30, 715-720.
44. López-Otín, C., Blasco, M.A., Partridge, L., Serrano, M. and Kroemer, G. (2013) The hallmarks of aging. Cell, 153, 1194-1217.
45. Burtner, C.R. and Kennedy, B.K. (2010) Progeria syndromes and ageing: what is the connection? Nat. Rev. Mol. Cell Biol., 11, 567-578.
46. Miller, J.D., Ganat, Y.M., Kishinevsky, S., Bowman, R.L., Liu, B., Tu, E.Y., Mandal, P.K., Vera, E., Shim, J.-W., Kriks, S. et al. (2013) Human iPSC-based modeling of late-onset disease via progerin-induced aging. Cell Stem Cell, 13, 691-705.