TorsinA is essential for neuronal nuclear pore complex localization and maturation

S Kim, S Phan, HT Tran, TR Shaw… - Nature cell …, 2024 - nature.com
As lifelong interphase cells, neurons face an array of unique challenges. A key challenge is
regulating nuclear pore complex (NPC) biogenesis and localization, the mechanisms of …

[HTML][HTML] TorsinA is essential for the timing and localization of neuronal nuclear pore complex biogenesis

S Kim, S Phan, TR Shaw, MH Ellisman, SL Veatch… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Nuclear pore complexes (NPCs) regulate information transfer between the nucleus and
cytoplasm. NPC defects are linked to several neurological diseases, but the processes …

Striatal cholinergic interneuron development in models of DYT1 dystonia

LN Miterko-Myers - Dystonia, 2024 - frontierspartnerships.org
Dystonia is a neurodevelopmental disorder characterized by severe involuntary twisting
movements, hypothesized to arise from a dysfunctional motor network involving the cortex …

Leveraging explainable deep learning methodologies to elucidate the biological underpinnings of Huntington's disease using single-cell RNA sequencing data

S Gao, Y Wang, J Wang, Y Dong - BMC genomics, 2024 - Springer
Background Huntington's disease (HD) is a hereditary neurological disorder caused by
mutations in HTT, leading to neuronal degeneration. Traditionally, HD is associated with the …