Katherine M. Andersh
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Evaluation of Induced Pluripotent Stem Cell‐Derived Dopaminergic Neurons from Siblings with Gaucher Disease Discordant for Parkinsonism Open
Background In Gaucher disease (GD), glucocerebrosidase (GCase) deficiency results from biallelic pathogenic GBA1 variants. While GBA1 variants are a major risk factor for Parkinson's disease (PD), most patients with GD never develop parkin…
View article: Validation of a Mitochondrial Polygenic Score for Parkinson’s Disease
Validation of a Mitochondrial Polygenic Score for Parkinson’s Disease Open
Background Mitochondrial dysfunction is a key player in Parkinson’s disease (PD) pathogenesis. Mitochondrial polygenic scores (MGS) may be associated with PD but require validation across diverse populations. Objective To validate the asso…
CNV-Finder: Streamlining Copy Number Variation Discovery Open
Copy Number Variations (CNVs) play pivotal roles in the etiology of complex diseases and are variable across diverse populations. Understanding the association between CNVs and disease susceptibility is significant in disease genetics rese…
View article: A new AI-assisted data standard accelerates interoperability in biomedical research
A new AI-assisted data standard accelerates interoperability in biomedical research Open
In this paper, we leveraged Large Language Models(LLMs) to accelerate data wrangling and automate labor-intensive aspects of data discovery and harmonization. This work promotes interoperability standards and enhances data discovery, facil…
IL1A enhances TNF-induced retinal ganglion cell death Open
Glaucoma is a neurodegenerative disease that leads to the death of retinal ganglion cells (RGCs). A growing body of literature suggests a role for neuroinflammation in RGC death after glaucoma-relevant insults. For instance, it was shown t…
Neuronal protein phosphatase 1β regulates glutamate release, cortical myelination, node of Ranvier formation, and action potential propagation in the optic nerve Open
Precise regulation of protein phosphorylation is critical for many cellular processes, and dysfunction in this process has been linked to various neurological disorders and diseases. Protein phosphatase 1 (PP1) is a ubiquitously expressed …
A model-based hierarchical Bayesian approach to Sholl analysis Open
Motivation Due to the link between microglial morphology and function, morphological changes in microglia are frequently used to identify pathological immune responses in the central nervous system. In the absence of pathology, microglia a…
A Model-Based Hierarchical Bayesian Approach to Sholl Analysis Open
S ummary Due to the link between microglial morphology and function, morphological changes in microglia are frequently used to identify pathological immune responses in the central nervous system. In the absence of pathology, microglia are…
Period Poverty: A Risk Factor for People Who Menstruate in STEM Open
In the United States, lack of access to menstrual hygiene products (MHPs) is contributing to a serious problem, period poverty. Period poverty has negative impacts on physical and mental health, as well as long term decreased productivity …