Presenilin mutations linked to familial Alzheimer's disease cause an imbalance in phosphatidylinositol 4,5-bisphosphate metabolism.

@article{Landman2006PresenilinML,
  title={Presenilin mutations linked to familial Alzheimer's disease cause an imbalance in phosphatidylinositol 4,5-bisphosphate metabolism.},
  author={N. Marco Landman and Soon Youn Jeong and Sun Young Shin and Sergey V Voronov and Geo Serban and Min Suk Kang and Myung Kyu Park and Gabriella Di Paolo and Sungkwon Chung and Tae-wan Kim},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2006},
  volume={103 51},
  pages={19524-9}
}
Phosphatidylinositol 4,5-bisphosphate (PIP2) is an important cellular effector whose functions include the regulation of ion channels and membrane trafficking. Aberrant PIP2 metabolism has also been implicated in a variety of human disease states, e.g., cancer and diabetes. Here we report that familial Alzheimer's disease (FAD)-associated presenilin mutations cause an imbalance in PIP2 metabolism. We find that the transient receptor potential melastatin 7 (TRPM7)-associated Mg2+ -inhibited… CONTINUE READING

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