Publications by authors named "Albert 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.
Article Synopsis
- - The study explores how neurons regulate neurotransmitter release and synaptic activity through endosomes, which are crucial for synapse function.
- - Elevated neuronal activity reduces the production of a specific lipid, PI(3)P, through the lipid kinase VPS34, impacting synaptic transmission and vesicle recycling.
- - The research identifies a novel role for PI(3)P in controlling presynaptic vesicle cycling, linking abnormalities in this process to potential neurological diseases.
Cortical GABAergic interneurons are generated in large numbers in the ganglionic eminences and migrate into the cerebral cortex during embryogenesis. At early postnatal stages, during neuronal circuit maturation, autonomous and activity-dependent mechanisms operate within the cortex to adjust cell numbers by eliminating naturally occurring neuron excess. Here, we show that when cortical interneurons are generated in aberrantly high numbers-due to a defect in precursor cell proliferation during embryogenesis-extra parvalbumin interneurons persist in the postnatal mouse cortex during critical periods of cortical network maturation.
View Article and Find Full Text PDFSox2(+) 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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