Robert A. Rissman

This study identifies cell-type-specific histone acetylation changes in Alzheimer's disease, highlighting MITF's potential role in microglial dysfunction.

This paper develops a deep-learning method to segment neurofibrillary tangles from brain tissue images using manual annotations, achieving high accuracy and scalability.

This study shows that astrocyte-derived extracellular vesicles from cognitively impaired individuals promote tau accumulation in an Alzheimer's mouse model, suggesting they may be both biomarkers and drivers of neurodegeneration.

The paper identifies gene associations with plasma pTau217 in preclinical Alzheimer's disease, showing modulation by APOEε4, Aβ-PET, and sex, with X-linked genes playing a role.

This paper presents preclinical data on a bispecific antibody, SAR446159, designed to target alpha-synuclein aggregates and cross the blood-brain barrier for treating synucleinopathies.

This study evaluates an antisense oligonucleotide (ASO) therapy for synucleinopathies, showing effective CNS delivery and reduction of α-synuclein levels in a mouse model.

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

This study examines the causal relationship between amyloid-beta biomarkers and total Tau in twins, finding no direct causal link but suggesting a causal impact on neurofilament light chain.

This study shows that AIBP regulates TLR4 inflammarafts and mitochondrial dysfunction in a mouse model of Alzheimer's disease, reducing neuroinflammation and neurodegeneration.

The paper assesses BEV-enrichment protocols for blood biomarkers in neurodegenerative diseases and identifies CNS-specific proteins for enrichment and biomarker use.

This study shows APP induces reactive astrogliosis in vitro and in vivo by remodeling intermediate filaments, enhancing cytokine production, and activating the IFN pathway.

The paper analyzes bulk RNA-seq data from diverse ethnic groups to identify differentially expressed genes and pathways in Alzheimer's Disease, highlighting cross-ethnic and ethnic-specific findings.

The paper identifies six genetic loci associated with Alzheimer's disease in Hispanics, showing both genetic and epigenetic risks, with some downstream effects on mRNA expression being ethnicity-specific.

The paper profiles retinal nuclei from Alzheimer's Disease and non-diagnosed cases to identify AD-associated gene expression changes in retinal microglia.

This study investigates the genetic and environmental factors influencing blood-based biomarkers related to Alzheimer's disease risk in middle-aged men.

This study evaluates blood-based exosomal TDP-43 as a biomarker for LATE-NC, finding elevated levels in ADEs from LATE-NC subjects but no correlation with cognition or APOE status.

This study identifies cell-type-specific dysregulated cis-regulatory elements and target genes in Parkinson's disease using multi-omic analyses of single-cell transcriptomes and epigenomes.

This study identifies JADE1 as a novel genetic factor in tauopathy through genome-wide association and functional validation in human and Drosophila models.

This study shows tau isoforms alter transposable element and gene expression in neurodegenerative diseases, with locus-specific dysregulation similar to patient samples.

This study generates a NGFR100W knockin mouse model of HSAN V, revealing structural and functional deficits in peripheral sensory nerves without central nervous system impairment.

The paper identifies cell type-specific enhancer-promoter connectivity in the human brain and links these to disease risk variants in Alzheimer's and psychiatric disorders.

The paper identifies TGIF1 and EGR3 as master regulators in Alzheimer's Disease by integrating gene expression and protein interactions, revealing their opposing roles in neuroprotection and synaptic deficits.