Jing‐Qiong Kang

This study tests the therapeutic effect of 4-phenylbutyrate (PBA) on GABRA1 variants associated with developmental epileptic encephalopathies using cell and mouse models, showing improved receptor expression and function.

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

The paper shows that SLC6A1 mutations cause GABA accumulation and impaired neurotransmission in mice, which are rescued by 4-phenylbutyrate.

TrimNN identifies spatial cell organization patterns from spatial transcriptomics and proteomics data to reveal associations between cell-type arrangements and phenotypes.

This study identifies G-CSF and IL-6 as drivers of myeloid dysregulation during severe viral infection, showing their role in emergency myelopoiesis and tissue injury.

This study examines four GABRA1 frameshift variants, showing they reduce GABAAR subunit trafficking and impair proteostasis, with varying severity based on transmembrane domain deletions.

This study shows that 4-phenylbutyrate (PBA) improves GABA uptake and reduces seizures in SLC6A1 mutation-related disorders by enhancing wildtype GAT-1 trafficking.