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The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.

Effect of Potent γ-Secretase Modulator in Human Neurons Derived From Multiple Presenilin 1–Induced Pluripotent Stem Cell Mutant Carriers

Liu, Qing, Waltz, Shannon, Woodruff, Grace, Ouyang, Joe, Israel, Mason A., Herrera, Cheryl, Sarsoza, Floyd, Tanzi, Rudolph E., Koo, Edward H., Ringman, John M., Goldstein, Lawrence S. B., Wagner, Steven L., Yuan, Shauna H.·2014·JAMA Neurology
DOI 10.1001/jamaneurol.2014.2482PMC PMC4374637
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  • Studies using human iPSC-derived neurons demonstrate that the PSEN1 M146L mutation significantly elevates the Aβ42/Aβ40 ratio by selectively increasing Aβ42 production without altering Aβ40 levels, a biochemical signature strongly linked to amyloid aggregation and neurotoxicity in AD.

    “Moreover, studies utilizing human induced pluripotent stem cell (iPSC)-derived neurons demonstrate that the M146L mutation significantly elevates the Aβ42/Aβ40 ratio by selectively increasing Aβ42 production without altering Aβ40 levels, a biochemical signature strongly linked to amyloid aggregation and neurotoxicity in AD (Liu et al. 2014), (Sproul et al. 2014), (Schrank et al. 2020).”

    From TMEM55B downregulation promotes neurodegeneration in Alzheimer’s disease models (2026) · cites this paper as Liu et al. 2014

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Research works printed but not linked: 23

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  2. [4]Grskovic M Javaherian A Strulovici B Daley GQ Induced pluripotent stem cells: opportunities for disease modelling and drug discovery Nat Rev Drug Discov 2011 10 12 915 929 22076509
  3. [5]Chávez-Gutiérrez L Bammens L Benilova I The mechanism of γ-secretase dysfunction in familial Alzheimer disease EMBO J 2012 31 10 2261 2274 22505025 PMC3364747
  4. [6]Yuan SH Shaner M Bioengineered stem cells in neural development and neurodegeneration research Ageing Res Rev 2013 12 3 739 748 23651546 PMC3742639
  5. [7]Kounnas MZ Danks AM Cheng S Modulation of gamma-secretase reduces beta-amyloid deposition in a transgenic mouse model of Alzheimer's disease Neuron 2010 67 5 769 780 20826309 PMC2947312
  6. [8]Lee G Ramirez CN Kim H Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression Nat Biotechnol 2012 30 12 1244 1248 23159879 PMC3711177
  7. [9]Peng J Liu Q Rao MS Zeng X Using human pluripotent stem cell-derived dopaminergic neurons to evaluate candidate Parkinson's disease therapeutic agents in MPP+ and rotenone models J Biomol Screen 2013 18 5 522 533 23364514
  8. [10]Takahashi K Tanabe K Ohnuki M Induction of pluripotent stem cells from adult human fibroblasts by defined factors Cell 2007 131 5 861 872 18035408
  9. [11]Chan EM Ratanasirintrawoot S Park IH Live cell imaging distinguishes bona fide human iPS cells from partially reprogrammed cells Nat Biotechnol 2009 27 11 1033 1037 19826408
  10. [12]Huangfu D Maehr R Guo W Induction of pluripotent stem cells by defined factors is greatly improved by small-molecule compounds Nat Biotechnol 2008 26 7 795 797 18568017 PMC6334647
  11. [14]Yuan SH Martin J Elia J Cell-surface marker signatures for the isolation of neural stem cells, glia and neurons derived from human pluripotent stem cells PLoS One 2011 6 3 e17540 21407814 PMC3047583
  12. [15]Kawasaki H Mizuseki K Nishikawa S Induction of midbrain dopaminergic neurons from ES cells by stromal cell-derived inducing activity Neuron 2000 28 1 31 40 11086981
  13. [18]Koch P Tamboli IY Mertens J Presenilin-1 L166P mutant human pluripotent stem cell-derived neurons exhibit partial loss of γ-secretase activity in endogenous amyloid-β generation Am J Pathol 2012 180 6 2404 2416 22510327
  14. [19]Mitani Y Yarimizu J Saita K Differential effects between γ-secretase inhibitors and modulators on cognitive function in amyloid precursor protein-transgenic and nontransgenic mice J Neurosci 2012 32 6 2037 2050 22323718 PMC6621706
  15. [20]Oehlrich D Berthelot DJC Gijsen HJ γ-Secretase modulators as potential disease modifying anti-Alzheimer's drugs J Med Chem 2011 54 3 669 698 21141968
  16. [21]Kumar-Singh S Theuns J Van Broeck B Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40 Hum Mutat 2006 27 7 686 695 16752394
  17. [23]Serneels L Van Biervliet J Craessaerts K Gamma-secretase heterogeneity in the Aph1 subunit: relevance for Alzheimer's disease Science 2009 324 5927 639 642 19299585 PMC2740474
  18. [24]Lott IT Head E Down syndrome and Alzheimer's disease: a link between development and aging Ment Retard Dev Disabil Res Rev 2001 7 3 172 178 11553933
  19. [25]Wagner SL Zhang C Cheng S Soluble γ-secretase modulators selectively inhibit the production of the 42-amino acid amyloid β peptide variant and augment the production of multiple carboxy-truncated amyloid β species Biochemistry 2014 53 4 702 713 24401146 PMC3929337
  20. [26]Takami M Nagashima Y Sano Y Gamma-secretase: successive tripeptide and tetrapeptide release from the transmembrane domain of beta-carboxyl terminal fragment J Neurosci 2009 29 41 13042 13052 19828817 PMC6665297
  21. [28]Crump CJ Johnson DS Li YM Development and mechanism of γ-secretase modulators for Alzheimer's disease Biochemistry 2013 52 19 3197 3216 23614767 PMC3796170
  22. [29]Kretner B Fukumori A Gutsmiedl A Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds J Biol Chem 2011 286 17 15240 15251 21357415 PMC3083200
  23. [30]Coric V van Dyck CH Salloway S Safety and tolerability of the γ-secretase inhibitor avagacestat in a phase 2 study of mild to moderate Alzheimer disease Arch Neurol 2012 69 11 1430 1440 22892585

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Metadata

Authors
Liu, Q., Waltz, S., Woodruff, G., Ouyang, J., Israel, M. A., Herrera, C., Sarsoza, F., Tanzi, R. E., Koo, E. H., Ringman, J. M., Goldstein, L. S. B., Wagner, S. L., & Yuan, S. H.
Affiliations
  • Department of Neurosciences, University of California, San Diego, La Jolla
  • Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla
  • Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla3Capitalbio, San Diego, California
  • Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla4Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas
  • Genetics and Aging Research Unit, Department of Neurology, Massachusetts General Hospital, Charlestown
  • Mary S Easton Center for Alzheimer’s Disease Research, Department of Neurology, University of California, Los Angeles
Venue
JAMA Neurology
Publisher
American Medical Association (AMA)
Published
2014-12-01
Volume
71
Issue
12
Pages
1481
ISSN
2168-6149
DOI
10.1001/jamaneurol.2014.2482
PMC
PMC4374637
Cited by
91
References
8
Language
en

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