Paul F. Worley

The paper identifies FRMPD4 as a causal gene for X-linked non-syndromic hearing loss through genetic analysis and cross-species functional studies.

This study identifies a molecular pathway involving TRIM32, UBQLN2, and p62 that forms condensates promoting TDP-43 aggregation in neurodegenerative diseases.

The paper uses zap-and-freeze electron microscopy to study synaptic vesicle dynamics in mouse and human brain slices, revealing conserved endocytic mechanisms.

This study uses bulk RNA-seq to analyze transcriptional changes in the middle temporal gyrus across Alzheimer's disease and aging, identifying distinct gene expression patterns and pathways associated with each condition.

The paper identifies molecular programs coordinated with NPTX2 that distinguish cognitive resilience in AD pathology from non-pathological cognition and AD.

The paper investigates NPTX2 dynamics in aging rats to understand its role in cognitive aging and neurodegeneration, finding that successful cognitive aging is linked to increased NPTX2 levels and adaptive responses to memory tasks.

This study identifies TRIAD3A as an autophagy adaptor that promotes tau fibrillation through phase separation and ubiquitination.

This study investigates the role of NPTX2 loss of function in sleep and circadian rhythm disruption, showing that NPTX2 KO mice exhibit disrupted circadian rhythms and sleep fragmentation.

This study shows that Orai1 is essential for osteoblast development by using chimeric mice with conditional deletion of Orai1 in osteoprogenitor cells, revealing impaired bone formation and mineralization.

This study identifies Nptx2 as a regulator of complement activity in the brain, showing its role in preventing microglial synapse elimination in health and disease.

This paper introduces ST-Cal-Light, a method to tag active neurons by converting somatic calcium signals into gene expression, enabling precise functional circuit analysis.

The paper shows that monocular deprivation in mouse visual cortex causes an all-or-none elimination of pyramidal cell connections to parvalbumin-positive interneurons, which is necessary for ocular dominance plasticity.