Publications by authors named "Noriyuki Shinagawa"
Objective: Brain somatic variants in SLC35A2 were recently identified as a genetic marker for mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). The role of SLC35A2 in cortical development and the contributions of abnormal neurons and oligodendrocytes to seizure activity in MOGHE remain largely unexplored.
Methods: Here, we generated a novel Slc35a2 floxed allele, which we used to develop two Slc35a2 conditional knockout mouse lines targeting (1) the Emx1 dorsal telencephalic lineage (excitatory neurons and glia) and (2) the Olig2 lineage (oligodendrocytes).
While breakthroughs with organoids have emerged as next-generation tools, standardization for drug discovery remains a challenge. This work introduces human airway organoids with reversed biopolarity (AORBs), cultured and analyzed in a high-throughput, single-organoid-per-well format, enabling milestones towards standardization. AORBs exhibit a spatio-temporally stable apical-out morphology, facilitating high-yield direct intact-organoid virus infection.
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- - Somatic mosaicism can lead to neurological disorders, like developmental brain malformations and epilepsy, and is typically thought to happen due to genetic changes after fertilization during fetal development.
- - This research presents a new idea that some brain mosaicism, specifically in patients with focal epilepsy and extra copies of chromosome 1q, could arise from genetic errors during the formation of reproductive cells.
- - Analysis revealed that these chromosome 1q gains were present only in the brain tissue of patients and not in their blood or buccal cells, particularly affecting astrocytes, which showed unique gene expressions and inclusions linked to epilepsy.