Sabina Berretta

This study shows that somatic DNA-repeat expansions in cortical and striatal neurons of Huntington's disease initiate similar pathological changes, but lead to distinct gene expression outcomes.

The paper performs spatial transcriptomics on the human prefrontal cortex across the lifespan to identify aging-related changes in different cortical layers.

The paper integrates genetic, transcriptomic, and structural data to show that Ca2+ dysregulation via ATP2B2 missense variants contributes to neuropsychiatric disorders.

This study creates a single-nucleus transcriptomic atlas of Parkinson's disease progression, identifying cell-type-specific gene expression changes and linking them to genetic risk factors and disease stages.

This study examines PNOC and OPRL1 expression in Alzheimer's disease, finding sex differences and associations with psychiatric symptoms and circadian disruption.

This study shows that chronic stress alters Pnoc expression in reward-related brain regions and that NOPR antagonism improves reward learning and motivation in animals and humans.

The paper identifies 46,802 enhancers and 164 psychiatric disorder variants with regulatory effects in the developing cortex and organoids using massively parallel reporter assays and deep learning.

The paper processes single-nuclei multi-omics data from 388 human brains to identify regulatory elements and build cell-type networks, revealing changes in aging and neuropsychiatric disorders.

The paper generates a molecular neuroanatomical map of the human prefrontal cortex using spatial transcriptomics and single nucleus RNA-sequencing, revealing novel spatial domains and cell-cell interactions linked to psychiatric disorders.

The paper shows that HTT CAG repeats expand in striatal neurons over time, leading to gene expression changes and neurodegeneration in Huntington disease.

This study shows that SKA2-regulated hyperactive secretory autophagy contributes to neuroinflammation and neurodegeneration in Alzheimer's disease.

The paper identifies a neuron-astrocyte gene expression program, SNAP, that declines in aging and schizophrenia, linking it to cognitive function and genetic risk factors.

This study uses single-cell transcriptomics to show reduced interneurons and microglia activation in TS basal ganglia, linking gene expression changes to impaired striatal function.

The paper analyzes single-nucleus RNA sequencing data from marmoset brain cells to show that neuronal identity is more influenced by developmental origin than functional class.

The paper uses natural language processing on post-mortem electronic health records to derive RDoC cognitive scores and associates them with Alzheimer's disease neuropathology.

The paper identifies population-level variation in enhancer expression in the human brain and links enhancer eQTL to schizophrenia heritability.

The paper identifies CS6 clusters as extracellular matrix microenvironments that support coordinated multi-dendrite synaptic plasticity in response to sensory stimuli.

The paper profiles interneurons in primates and rodents to identify evolutionary innovations in brain cell types and their molecular features.

The paper investigates circadian rhythms of perineuronal nets (PNNs) in rodents and humans, showing diurnal and circadian variations and disruption by sleep deprivation.

The paper identifies mir-135b-5p as a regulator of persistent stress-enhanced memory and a potential therapeutic target and biomarker for PTSD.