Steven M. Finkbeiner

The paper provides a comprehensive survey of the ubiquitin-proteasome system (UPS) and estimates its size and scope within the human proteostasis network.

This study shows that Parkin deficiency alters genetic dependencies for neuronal survival, identifying key pathways and genes involved in this rewiring.

This study performs a single-nucleus transcriptome-wide association study to identify gene-trait associations in brain disorders, revealing cell-type-specific genetic regulation and ancestry-specific patterns.

The paper constructs a single-nucleus atlas of genetic regulation in the human brain, identifying cell-type-specific regulatory effects and disease-associated genes.

This paper uses machine learning to identify cellular signatures in human motor neurons that distinguish TDP-43 ALS subtypes and enable patient stratification.

This study shows that NEUROG2 can reprogram human microglial lineage cells into neurons both in vitro and in vivo, revealing a new pathway for neuronal replacement.

This study compares the effects of HTT knockout and CAG repeat expansion in cortical neurons, identifying shared and distinct biological pathways involved in HD.

This study identifies opposing roles of p38α phosphorylation and arginine methylation in TDP-43 proteinopathy, showing that phosphorylation promotes aggregation while methylation reduces it.

This study uses a dynamic in vitro model to correct Trisomy 21 gene dosage in DS neurogenesis and shows XIST can suppress chr21 genes even after terminal differentiation.

This paper introduces a trisomy 21-linked CSF2RB mutation in microglia that reduces neuroinflammation and enhances phagocytic functions, offering potential for AD therapy.

The paper constructs a PPI network of 100 high-confidence ASD genes, identifies novel interactions, and uses AlphaFold-Multimer to prioritize variants for functional validation in organoids.

The paper analyzes ATAC-seq data from iPSC-derived motor neurons of ALS patients and controls to identify disease-specific chromatin accessibility changes and their predictive power for disease progression.

This paper develops a deep learning pipeline to automate amyloid pathology quantification in Alzheimer's disease, achieving human-level accuracy and enabling high-throughput analysis.

The paper curates a list of 838 high-confidence components of the autophagy-lysosome pathway as part of a comprehensive effort to define the human proteostasis network.

The paper presents a multi-layered molecular dataset from iPSC-derived dopaminergic neurons to model Parkinson's disease genetic risk and provides a data browser for accessing these resources.

This study uses patient-derived neurons to show that PGRN deficiency causes proteostasis breakdown and TDP-43 aggregation in FTD.

The paper defines and annotates 959 genes comprising the human proteostasis network, focusing on translation, protein folding, and organelle-specific systems.

The paper compares TDP-43's transcriptional and splicing effects in muscle and neuronal cells, showing tissue-specific roles in disease.

This study identifies TRIM1 as an E3 ligase that ubiquitinates LRRK2, regulating its localization, degradation, and toxicity in Parkinson's Disease.

This paper introduces GEDI, a fluorescent biosensor that detects early irreversible commitment to cell death in neurons, enabling real-time and high-throughput analysis of neurodegeneration.

The paper develops a deep learning algorithm to predict neurite structure and length in fluorescence imaging, achieving near-human accuracy and efficiency for large datasets.

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

This paper introduces a cell tracking method based on Voronoi partition and stable matching to improve tracking accuracy from coarsely sampled live-cell imaging data.

The paper performs an integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients to identify dysregulated pathways and validate them in vivo and in postmortem data.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.

The paper uses unsupervised machine learning to identify three molecular subtypes in ALS cortex samples, associated with oxidative stress, retrotransposon activation, and glial activation.

The paper introduces VariantKey, a reversible numerical encoding for genetic variants, and presents compounds that inhibit stress granule formation and TDP-43 accumulation in ALS/FTD models.

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.