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
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
These findings provide the first single-cell–level cortical map of AHDS brain pathology, revealing cilia defects, excitation–inhibition imbalance, differing pseudotime trajectories in glutamatergic neuronal populations and altered oligodendrocyte maturation, with actionable candidate genes such as Lama2, Litaf, and Dcc...
Anna Molenaar, Ekta Pathak, Miriam Bernecker et al.· Thyroid· 0 citations
It is shown that neurogenesis is disrupted at multiple stages of lineage progression in both rodent and human neural stem cell models of Huntington's disease, and a panel of clinically relevant epigenetic compounds hold promise for stage-spanning therapeutic strategies capable of modifying disease trajectory.
Jessica Rosati, A. Casamassa, G. Ruotolo et al.· Cell Death and Differentiati...· 0 citations
Dysferlin loss in iMPs results in cell-autonomously altered transcriptome, secretome, and endocytic function, which may contribute to LGMDR2 muscle pathology and disease progression.
Amber Detwiler, Rachel Luner, Alex Schneider et al.· Journal of Immunology· 0 citations
Cortical organoids are established as a robust human model of CDM-associated neurodevelopmental defects, uncover MBNL-dependent mechanisms underlying early corticogenesis impairment and demonstrate the utility of this platform for translational therapeutic discovery in DM1.
Azania Abatan, Jérôme Polentes, M. Bouquier et al.· bioRxiv· 0 citations
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