Carolyn M. Sue

This study shows that astrocytes in the substantia nigra pars compacta of A53T transgenic mice have more -synuclein aggregates and reactive morphology compared to wild-type mice.

The paper analyzes mitochondrial DNA variation in a healthy older cohort, identifies pathogenic variants, and proposes improved heteroplasmy thresholding to reduce false positives.

The paper assesses mitochondrial disease variants and genome constraint in healthy older adults, finding no significant phenotype associations but suggesting constraint measures may relate to aging biomarkers.

This study analyzes POLG variants in Parkinson's disease across multiple ancestries and finds rare pathogenic variants in some cases, suggesting potential contributions to PD in isolated instances.

The paper uses machine learning to analyze neuronal morphology in Parkinson's disease iPSC-derived neurons, identifying genotype-specific mitochondrial and lysosomal abnormalities.

This study compares dopamine and cortical neurons with PD mutations to identify cellular dysfunctions linked to different pathological phenotypes.

The paper validates a mitochondrial polygenic score for Parkinson's disease across diverse populations, finding strong associations in Europeans and Ashkenazi Jews but not in other ancestries.

mity detects low heteroplasmy mitochondrial variants in whole genome sequencing data, improving diagnostic rates for mitochondrial diseases.