Publications by authors named "Albert Ian Mackintosh"

Article Synopsis
  • - Epilepsy is a common neurological disorder, with focal epilepsy being the most prevalent, yet the genetic factors contributing to it are not fully understood.
  • - The study identifies that rare genetic mutations in the PIK3C2B gene disrupt lipid signaling, which in turn causes problems in synthesizing a specific lipid, leading to excessive activation of mTORC1 and heightened neuronal excitability.
  • - Targeting mTORC1 with inhibitors in mutant mice showed promise in preventing seizures, suggesting a new potential treatment strategy for certain patients with focal epilepsy.
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Sox2(+) adult mouse pituitary cells can self-renew and terminally differentiate in vitro, but their physiological role in vivo and possible contribution to oncogenesis remain largely unknown. Using genetic lineage tracing, we show here that the Sox2(+) cell compartment of both the embryonic and adult pituitary contains stem/progenitor cells that are able to differentiate into all hormone-producing lineages and contribute to organ homeostasis during postnatal life. In addition, we show that targeted expression of oncogenic β-catenin in Sox2(+) cells gives rise to pituitary tumors, but, unexpectedly, the tumor mass is not derived from the Sox2(+) mutation-sustaining cells, suggesting a paracrine role of Sox2(+) cells in pituitary oncogenesis.

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