Amy Li

Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome

This study examines temporal transcriptomic changes in mouse brains with and without SLOS mutations, identifying altered pathways and gene expression patterns at different developmental stages.

The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1

The paper assesses the pathogenicity of PSEN2 variants by comparing Aβ production and homology to PSEN1 variants, finding correlations with age at symptom onset.

Inhibition of mTORC1 by rapamycin results in feedback activation of Akt S473 and aggravates hallmarks of osteoarthritis in female mice and non-human primates

This study shows that rapamycin inhibits mTORC1 and activates AktS473 in joint tissues, leading to worsened osteoarthritis in female mice and marmosets.

Identification of Fibrinogen as a Plasma Protein Binding Partner for Lecanemab Biosimilar IgG: Implications for Alzheimer's Disease Therapy

This study identifies fibrinogen as a plasma protein binding partner for lecanemab biosimilar, suggesting it may affect drug half-life and free antibody levels in Alzheimer's disease therapy.

MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome

The paper uses MALDI-IM-MS imaging to map sterol and lipid distributions in Dhcr7-KO and WT mouse brains, identifying differentially expressed lipids linked to SLOS pathophysiology.

7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome

This study shows that DHCR7 deficiency leads to oxysterol accumulation, causing premature neurogenesis and neuronal localization issues in SLOS, with GR as a potential therapeutic target.

The Carcinogenome Project: In-vitro Gene Expression Profiling of Chemical Perturbations to Predict Long-Term Carcinogenicity

The paper develops an in-vitro gene expression screening method to predict chemical carcinogenicity and genotoxicity using HepG2 cells and machine learning models.

iEDGE: integration of Epi-DNA and Gene Expression and applications to the discovery of somatic copy number-associated drivers in cancer

iEDGE integrates epi-DNA and gene expression data to identify cis and trans driver genes in cancer, showing enrichment for known oncogenes and tumor suppressors.