Mary E. Hatten

This study shows that H3K27me3 maintenance in mature neurons via EZH1 has minimal impact on gene expression and chromatin accessibility.

This study identifies G-quadruplexes as a source of genome instability in BRCA2-deficient granule cell progenitors and medulloblastoma, suggesting PIF1 helicase as a therapeutic target.

This study shows that Astn2 knockout mice display ASD-like behaviors and altered cerebellar circuit properties, including changes in synaptic transmission and glial volume.

This study shows that H4K91 mutants alter chromatin occupancy and misregulate neuronal differentiation, leading to microcephaly-like phenotypes in mice.

The paper shows that histone bivalency regulates the timing of cerebellar granule cell development by controlling gene expression during migration and differentiation.

The paper develops a protocol to generate human cerebellar granule cells from pluripotent stem cells and identifies molecular differences in their development compared to mice.

This study compares gene expression in human and mouse Purkinje cells using transcriptomics, identifying shared and distinct genetic pathways and a novel human marker gene.

This study shows that PI31 is essential for neuronal protein homeostasis, synapse maintenance, and survival in mice, with implications for neurodegenerative diseases.

This study maps the membrane topology and maturation mechanism of murine Astn1 and Astn2, showing they mature via endoproteolytic cleavage by signal peptidase.

This study shows that ASTN1 binds N-cadherin (CDH2) in cis and trans, forming a bridge complex that supports glial-guided neuronal migration.

This study shows ASTN2 modulates synaptic activity by regulating surface protein expression through endocytosis and degradation in Purkinje cells.

The paper identifies differences in alternative polyadenylation (APA) between mouse cerebellar neuron types and shows how APA affects gene regulation and function.