It is shown that oligodendroglial Cit-k loss and the resulting hypomyelination are sufficient to produce long-lasting neurological and behavioral impairments independently of primary neuronal defects.
It is demonstrated that Ficd deletion mitigates the pathological decrease in myelin structural proteins and oligodendrocyte maturation factors, restoring levels of mature, myelinating oligodendrocytes and identifies FICD as a novel target for alleviating non-neuronal toxicity in SCA3.
K. V. Van Pelt, Ya-Mei Deng, A. Nesvizhskii et al.· bioRxiv· 0 citations
Germline heterozygous TCF4 LOF, which models PTHS, does not appear to significantly affect the astrocyte lineage at the cell population level, and germline heterozygous Tcf4 LOF did not result in misallocation of ventrally derived astrocytes into the dorsal cortex.
Sarain Stump, Joseph F. Bohlen, BaDoi N. Phan et al.· Neuroglia· 0 citations
It is concluded that CA1 PCs hyperexcitability from Frm1 KO mice was detectable at late postnatal development (P21-28), but not earlier (P8-15), and was due to a shifting of action potential voltage threshold to more hyperpolarized values.
M. A. Luque, L. Dufresne, B. Torres et al.· Neuroscience· 0 citations
TANGO2 deficiency disorder (TDD) is a rare genetic disease caused by mutations in the TANGO2 gene, characterized by prominent neurological symptoms. However, the pathological mechanisms underlying TANGO2 loss-of-function in neurologic symptoms remain unknown. Here, we generated constitutive and cell-type-specific Tango...
Jiewen Chen, Zhili Liu, Fengling Chen et al.· The FASEB Journal· 0 citations
It is demonstrated that SYNGAP1 haploinsufficiency disrupts early human brain development and accelerates intrinsic neuronal maturation, with pathogenic mechanisms emerging before synaptogenesis and extending beyond SYNGAP1’s established synaptic role.
Montanna Waters, Lucas Teasdale, Sean Byars et al.· bioRxiv· 0 citations
This study indicates that KIF2C may regulate microtubule dynamics to control deep-layer cortical neuron number and organization and modulate neuronal projections and signaling pathways and provides a foundation for understanding the role of KIF2C in neural development.