Richard J. Perrin

Parietal Cortex Transcriptomics Refines Parkinson Disease GWAS Nomination and Highlights STAT3 as a Putative Upstream Glial Regulator

This study integrates parietal cortex transcriptomics with GWAS data to refine Parkinson's disease risk gene nominations and identify STAT3 as a potential upstream glial regulator.

Ms4a4a loss reprograms amyloid-associated microglia and limits dense-core plaque-associated tau spreading

This study shows that loss of Ms4a4a remodels microglial transcriptional programs and reduces dense-core plaque-associated tau spreading in a mouse model of Alzheimer's disease.

Distribution of big tau isoforms in the human central and peripheral nervous system

The paper characterizes big tau isoforms in human nervous system tissues and CSF, finding they are enriched in the peripheral nervous system and largely unaffected by neurodegenerative disease.

Network-based amyloid-beta pathology predicts subsequent cognitive decline in cognitively normal older adults

This study uses machine learning to show that integrating brain connectome data with amyloid-beta PET imaging improves prediction of cognitive decline in older adults.

Hemispheric Asymmetry of Tau Pathology is Related to Asymmetric Amyloid Deposition in Alzheimer's Disease

The paper investigates whether hemispheric asymmetry in tau pathology in Alzheimer's disease is linked to reduced inter-hemispheric connectivity or asymmetric amyloid-beta distribution, finding a strong association with amyloid-beta laterality.

Systematic analysis of cellular crosstalk reveals a role for SEMA6D-TREM2 regulating microglial function in Alzheimer's disease

The paper investigates cell-to-cell communication in Alzheimer's disease to characterize disease biology and suggest new avenues for therapeutic intervention.

Transcriptome-wide association study of Alzheimer disease reveals many differentially expressed genes and multiple biological pathways in brain tissue from African American donors

This study identifies differentially expressed genes and pathways in Alzheimer's disease brain tissue from African American donors, highlighting potential targets for treatment.

Structure of alpha-synuclein fibrils derived from human Lewy body dementia tissue

This study determines the atomic structure of alpha-synuclein fibrils from Lewy body dementia tissue using a novel amplification method and solid-state NMR.

Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer disease

This study identifies four novel genetic loci associated with soluble TREM2 levels in CSF through GWAS and provides functional validation of their roles in Alzheimer's disease.

Increasing hub disruption parallels dementia severity in autosomal dominant Alzheimer disease

This study shows hub disruption in ADAD follows a targeted attack pattern, detectable pre-clinically and linked to amyloid beta changes and neuronal activity.

Functional variations in gamma-secretase activity are critical determinants of the clinical, biomarker, and cognitive progression of autosomal dominant Alzheimer's disease

The paper quantifies Aβ production from PSEN1 variants and links it to clinical and biomarker progression in ADAD, showing strong associations with disease trajectories.

A peptide-centric quantitative proteomics dataset for the phenotypic assessment of Alzheimer's disease

The paper presents a high-quality quantitative proteomics dataset for Alzheimer's disease, including samples from different brain regions and clinical groups.

Multimodal brain age estimates relate to Alzheimer disease biomarkers and cognition in early stages: a cross-sectional observational study

This study examines how brain age estimates from different MRI modalities relate to Alzheimer's disease biomarkers and cognition in early stages.

Brain cross-omics integration in Alzheimer's disease

The paper integrates multi-omics data from Alzheimer's disease cohorts to identify molecular profiles linked to disease progression and severity.

Leveraging large multi-center cohorts of Alzheimer Disease endophenotypes to understand the role of Klotho heterozygosity on disease risk

This study investigates the association between Klotho heterozygosity and Alzheimer's disease risk in APOE4 carriers using multiple AD endophenotypes from large cohorts.

Neuroimaging within the Dominantly Inherited Alzheimer's Network (DIAN): PET and MRI

The paper describes MRI and PET protocols used in the DIAN study to investigate preclinical Alzheimer's disease and reports key imaging findings.

Circular RNA detection identifies circPSEN1 alterations in brain specific to Autosomal Dominant Alzheimer Disease

This study identifies increased circPSEN1 levels in ADAD brains compared to sporadic AD and controls, suggesting a potential role in neuroinflammatory processes.

Spontaneous Isomerization of Asp387 in Tau is Diagnostic for Alzheimer's Disease: An Endogenous Indicator of Reduced Autophagic Flux

The paper identifies isomerization of Asp387 in tau as a marker of reduced autophagic flux in Alzheimer's disease using mass spectrometry analysis of brain tissue.

Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer disease brains

This study identifies metabolomic and lipidomic signatures in Alzheimer's disease brains with different genetic risk factors and finds associations with disease subtypes and progression.

Genome-wide association study and functional validation implicates JADE1 in tauopathy

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

Genome-wide association, Mendelian Randomization and polygenic risk score studies converge on a role of beta-amyloid and APOE locus in Parkinson disease

The paper uses GWAS, PRS, and MR to show a genetic link between Parkinson's disease and CSF Aβ42 and APOE locus.

Genomic and multi-tissue proteomic integration for understanding the biology of disease and other complex traits

The paper integrates genomic and proteomic data across multiple tissues to identify protein quantitative loci (pQTL) and their implications for neurodegenerative diseases.

A single- nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

This study uses single-nuclei RNA-seq to compare cell proportions and gene expression in Mendelian and sporadic AD brains, identifying reduced excitatory neurons in a Mendelian carrier and proposing best practices for analysis.