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% Source: https://alzhub.org/research?atag=presenilin-1-mutations
% 6 entries, in the order the page lists them. Built from alzhub.org's own records.
% 0 entries have no readable author in the source record and carry no author field.

@article{shen2019-31235249,
  author  = {Shen, L. and Qin, W. and Wu, L. and Zhou, A. and Tang, Y. and Wang, Q. and Jia, L. and Jia, J.},
  title   = {{Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization}},
  journal = {Biochemical and biophysical research communications},
  year    = {2019},
  doi     = {10.1016/j.bbrc.2019.05.185},
  pmid    = {31235249},
  url     = {https://doi.org/10.1016/j.bbrc.2019.05.185}
}

@article{ataka2004-15534188,
  author  = {Ataka, S. and Tomiyama, T. and Takuma, H. and Yamashita, T. and Shimada, H. and Tsutada, T. and Kawabata, K. and Mori, H. and others},
  title   = {{A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis}},
  journal = {Archives of neurology},
  year    = {2004},
  doi     = {10.1001/archneur.61.11.1773},
  pmid    = {15534188},
  url     = {https://doi.org/10.1001/archneur.61.11.1773}
}

@article{xia2016-27100200,
  author  = {Xia, D. and Kelleher, R. J. and Shen, J.},
  title   = {{Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain}},
  journal = {Neuron},
  year    = {2016},
  doi     = {10.1016/j.neuron.2016.03.009},
  pmid    = {27100200},
  url     = {https://doi.org/10.1016/j.neuron.2016.03.009}
}

@article{dowjat2004-15004326,
  author  = {Dowjat, W. K. and Kuchna, I. and Wisniewski, T. and Wegiel, J.},
  title   = {{A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations}},
  journal = {Journal of Alzheimer's disease : JAD},
  year    = {2004},
  doi     = {10.3233/jad-2004-6105},
  pmid    = {15004326},
  url     = {https://doi.org/10.3233/jad-2004-6105}
}

@article{katayama1999-10587643,
  author  = {Katayama, T. and Imaizumi, K. and Sato, N. and Miyoshi, K. and Kudo, T. and Hitomi, J. and Morihara, T. and Yoneda, T. and others},
  title   = {{Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response}},
  journal = {Nature cell biology},
  year    = {1999},
  doi     = {10.1038/70265},
  pmid    = {10587643},
  url     = {https://doi.org/10.1038/70265}
}

@article{song1999-10359821,
  author  = {Song, W. and Nadeau, P. and Yuan, M. and Yang, X. and Shen, J. and Yankner, B. A.},
  title   = {{Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations}},
  journal = {Proceedings of the National Academy of Sciences of the United States of America},
  year    = {1999},
  doi     = {10.1073/pnas.96.12.6959},
  pmid    = {10359821},
  url     = {https://doi.org/10.1073/pnas.96.12.6959}
}