J. Nicholas Cochran

The paper identifies NINL as a modulator of tau aggregation through integrative genomic and functional analyses linking it to proteostasis dysfunction in FTD and AD.

The paper identifies cis-regulatory elements and genetic variation effects in the MAPT locus using MPRA and CRISPRi in neuronal and HEK293FT cells.

This study identifies genetic variants associated with Alzheimer's disease and frontotemporal dementia in admixed Latin American populations using whole-genome sequencing and ancestry analysis.

The paper identifies cell type-specific regulatory elements in nine mammals and shows their conservation and association with neuropsychiatric and neurodegenerative disease risks.

The paper introduces a standardized iPSC-derived microglia model to study transcriptional regulatory networks in CNS diseases and identifies disease-associated genetic variants.

This study generates a conditional tau knockout model and shows that tau reduction in excitatory neurons provides excitoprotective effects, while reduction in inhibitory neurons increases seizure susceptibility, even when induced in adulthood.

The paper finds reduced PIN1 gene expression in female Alzheimer's patients correlates with cognitive decline and neuropathological features, suggesting it as a potential biomarker for AD risk in women.

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

The paper analyzes genomic data from early-onset and atypical dementia patients to show that both rare and common genetic variations contribute to dementia risk.

The paper identifies cis-regulatory elements (cCREs) controlling MAPT expression and links genetic variation in these elements to Alzheimer's disease risk.

This study identifies a non-coding variant in SCN1A that causes aberrant inclusion of a poison exon, leading to reduced Nav1.1 expression and Dravet syndrome in a mouse model.

This study identifies a PEA15 mutation in domestic cats causing lissencephaly and cerebral malformations, revealing a role for PEA15 in gyrencephalic brain development.

This study shows that increased BIN1 expression in neurons leads to hyperexcitability, which is modulated by Tau, suggesting a role for BIN1 in Alzheimer's disease pathogenesis.

The paper identifies rare variants in TET2 associated with early-onset Alzheimer's disease and frontotemporal dementia, highlighting both coding and non-coding variants as risk factors.

Genome sequencing for early-onset dementia identified genetic variants in 50% of patients, including pathogenic variants and moderate penetrance alleles, supporting an oligogenic model.

The paper develops a peptide inhibitor of Tau-SH3 interactions and shows it reduces Aβ oligomer toxicity in neurons.

This study analyzes genomic data from 371 children with intellectual disability or developmental delay to identify pathogenic variants and assess diagnostic utility.