Sally A. Cowley

Cortical organoids from healthy human iPSCs, seeded with Alzheimer brain tau, form three-repeat tau filaments that cryo-EM shows are identical to Alzheimer paired helical filaments and need endogenous tau.

This paper develops a method to quantitatively analyze the structural states of alpha-synuclein in vitro and in situ, revealing conformational changes in yeast and human neurons.

This study uses human iPSC-derived microglia with high polygenic AD risk to identify functional impairments in immune response, mitochondrial function, and amyloid-beta uptake.

This study shows human iPSC-derived microglia uptake and process tau fibrils, leading to secretion in extracellular vesicles that can seed tau aggregation in neurons.

This study uses single-cell and spatial transcriptomics to analyze immune responses in non-human primates after retinal gene therapy, identifying persistent immune infiltration and cytokine-driven inflammation.

The paper uses single-nucleus RNA sequencing to identify cell type-specific dysregulation in Parkin-deficient neuron-microglia co-cultures, revealing distinct pathway disturbances in dopaminergic neurons and microglia.

This study uses cerebellar organoids to model FOXP2 expression in early human cerebellar development and identifies its targets and associated neurodevelopmental vulnerabilities.

The paper integrates QTL mapping and CRISPR screening in iPSC-derived microglia to identify genetic drivers of neurodegenerative risk by linking variants to phenotypes and gene expression.

The paper examines TFEB and TFE3 expression and function in brain cells, showing TFEB is restricted to glia while TFE3 is widespread, with distinct roles in mitochondrial and lysosomal biogenesis in neurons.

This study shows USP30 inhibition improves mitochondrial health through both PINK1-dependent and independent mechanisms, enhancing mitophagy and mitochondrial efficiency in neurons.

The paper identifies essential membrane transporters for Leishmania survival through a CRISPR-Cas9 gene deletion screen, finding that V-ATPase is critical for amastigote survival despite being dispensable for promastigote growth.

This study systematically identifies structure-specific protein-protein interactions using LiP-MS, demonstrating its application to alpha-synuclein in Parkinson's disease.

This study shows that reducing tau in human neurons decreases A beta toxicity, supporting the role of tau in Alzheimer's disease mechanisms.

This study uses human iPSC-derived cerebellar organoids to investigate how PTCH1 mutations affect neural development and early medulloblastoma pathways.

This study uses a novel proteomics platform to identify PTM dysregulation in GBA-N370S PD neurons, revealing impaired neuritogenesis and a role for tau.

This study integrates human iPSC-derived microglia into midbrain organoids, enhancing neuronal maturation and functionality through effects on synaptic remodeling and excitability.

This study identifies altered mitochondrial and energy metabolism in PARK2 mutant human iPSC-derived dopaminergic neurons through metabolomic analysis.

This study generates iPSCs from SCA7 patients and shows molecular and electrophysiological abnormalities in derived neurons and photoreceptors.

This study shows that tissue-resident macrophages are essential for lymphatic vessel growth and patterning during heart development by remodeling the vascular plexus.

The paper shows that ADAM17-triggered TNF signaling in Drosophila retina protects against age-related lipid droplet-mediated degeneration by initially buffering ROS but later causing toxic lipid release.

This study corrects a C9orf72 hexanucleotide expansion in iPSC-derived motor neurons using CRISPR/Cas9 and HDR, restoring normal gene expression and eliminating pathological phenotypes.