Kijung Sung

This study correlates 276 missense variants in PSEN1, PSEN2, and APP with Aβ peptide levels and variant effect predictors to assess pathogenicity in early-onset Alzheimer's disease.

This study evaluates AlphaMissense and other tools for distinguishing gain-of-function and loss-of-function variants in PIEZO1, finding they struggle with GoF predictions and highlighting structural and biophysical insights.

This study evaluates the pathogenicity and structural effects of TREM2 variants using AlphaFold2 to classify 32 missense variants and identify 10 destabilizing variants.

This study investigates how the Rab7V162M mutation in CMT2B affects mitochondrial morphology and function in fibroblasts and neurons, showing mitochondrial fragmentation and dysregulated movement.

This study generates a NGFR100W knockin mouse model of HSAN V, revealing structural and functional deficits in peripheral sensory nerves without central nervous system impairment.

This study investigates the NGFR100W mutation in NGF, showing it supports neuronal survival via TrkA but fails to activate p75NTR, distinguishing trophic from nociceptive signaling.