Pan P. Li

This study introduces an ultra-rare AKAP11 protein-truncating variant in mice, showing it causes anxiety- and depression-like behaviors and disrupts PKA signaling.

The paper identifies a specific APOE transcript and functional SNP associated with Alzheimer's disease using integrated genomic data from human postmortem brains.

This study identifies bidirectional transcription at the PPP2R2B gene locus in SCA12 and shows that expanded antisense transcripts are toxic and contribute to disease pathogenesis.

This paper shows edaravone protects mRNA-induced motor neurons from neurotoxicity by activating the GDNF/RET signaling pathway and can replace neurotrophic factors for neuron survival.

This study shows that expanded ATXN2 transcripts are toxic and disrupt rRNA processing in SCA2, similar to expanded HTT transcripts in HD, suggesting a shared mechanism in repeat expansion diseases.