Shan V. Andrews

This study measures CSF glucosylsphingosine (GlcSph) levels in Parkinson’s disease patients and finds elevated GlcSph in GBA1 carriers and sporadic PD, indicating central GCase pathway impairment.

This study shows chronic NLRP3 inflammasome activation leads to neutrophil entry into the brain and interactions with microglia, contributing to CNS pathology.

This study shows the PD-risk GBA1 variant E326K reduces lysosomal GCase activity by disrupting LIMP2 interaction and causes lysosomal and mitochondrial dysfunction.

This study shows that LRRK2 kinase activity affects BMP and GSL levels in lysosomes, linking lysosomal dysfunction to Parkinson's disease through changes in GCase activity and BMP accumulation.

This study shows that GPR34 regulates microglia function and loss-of-function in TREM2 KO microglia rescues cholesterol metabolism, suggesting GPR34 as a therapeutic target for Alzheimer's disease.

This study identifies genetic risk factors for early-onset Parkinson's Disease in a South Asian population, finding a genome-wide significant signal in the SNCA region and associations with BSN gene variants.

The paper analyzes endometrial DNA methylation and genetic variants to identify mQTLs and their association with endometriosis risk and menstrual cycle phases.

The paper identifies fetal sex-specific differentially methylated CpG sites and regions in placental DNA methylation data from 532 samples.

The paper develops and applies quantitative assays to measure LRRK2 and pRab10 levels in cellular models and human subjects to assess LRRK2 kinase activity and its association with Parkinson's disease.

The paper identifies DNA methylation at ZNF300 associated with fetal sex and placental morphology using whole genome bisulfite sequencing and multiple datasets.

This paper presents the largest case-control epigenome-wide association study (EWAS) for autism spectrum disorder (ASD) using blood DNA methylation data, finding no significant CpG sites but suggestive associations and concordance with brain samples.

The paper associates elevated polygenic autism risk with differential DNA methylation at birth, using a large cohort of infants and integrating genetic and epigenetic data.

The paper integrates genetic and epigenetic data to identify ASD-associated SNPs enriched in tissue-specific meQTLs and reveals immune-related pathways and psychiatric condition links.

The paper identifies gap probes in Illumina methylation array data that show clustered methylation distributions, showing they can reflect genetic variation and aid in population stratification adjustment.