Rajesh Kumar Soni

Disrupting SORL1-retromer endosomal recycling in mice drives the age-dependent neurodegenerative signature of Alzheimer's disease

This study shows that disrupting SORL1-retromer recycling in mice leads to age-dependent brain atrophy resembling Alzheimer's disease, which can be reversed by restoring SORL1 function.

H3K27me3 spreading organizes canonical PRC1 chromatin architecture to regulate developmental programs

The paper shows that H3K27me3 spreading regulates chromatin architecture and gene repression, with implications for cell fate and tumor development.

Validation of differentiated sinoatrial-like hiPSCs as a model of native sinus node myocytes

The paper validates a protocol to generate sinoatrial-like hiPSC-derived cardiomyocytes that mimic native SAN myocytes in function and protein expression.

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy

The paper identifies a pathogenetic mechanism for RPL3L-linked dilated cardiomyopathy, showing that gain-of-toxicity variants in muscle-specific ribosomes cause severe neonatal heart failure.

Phosphoproteomics unveils the signaling dynamics in neuronal cells stimulated with insulin and insulin-like growth factors

This study uses phosphoproteomics to analyze signaling dynamics in neuronal cells stimulated with insulin and IGFs, identifying key phosphorylation events and pathways involved in actin cytoskeletal regulation.

mfSuSiE enables multi-cell-type fine-mapping and multi-omic integration of chromatin accessibility QTLs in aging brain.

mfSuSiE improves fine-mapping of chromatin accessibility QTLs across multiple cell types and integrates multi-omic data in aging human brain samples.

A workflow using diaPASEF global quantitative proteomic analysis reveals extracellular vesicle biomarker candidates for non-invasive diagnostics in non-small cell lung cancer

This study uses diaPASEF proteomic analysis of extracellular vesicles from lung cancer cell lines to identify urine-detectable protein biomarkers for non-invasive diagnostics of non-small cell lung cancer subtypes.

Molecular and neuropathological determinants of neuronal dysfunction in Alzheimer's disease

This study identifies molecular predictors of neuronal dysfunction in Alzheimer's disease by analyzing E/I imbalance and its relationship with neuropathology.

Macrophage WDFY3, a protector against autoimmunity

This study shows WDFY3 protects against autoimmunity by enhancing macrophage efferocytosis, reducing autoantigen release, and suppressing T cell and inflammasome activation.

Angiopoietin signalling is a central axis of amyloid-driven vascular dysfunction in Alzheimer's disease

This paper uses VINE-seq to create a vascular transcriptomic atlas in Alzheimer's disease, revealing transcriptional changes in vascular cells and identifying angiopoietin signaling as a key dysregulated pathway.

Single-cell transcriptomic landscape of the neuroimmune compartment in amyotrophic lateral sclerosis brain and spinal cord

The paper identifies microglia subsets in ALS brain and spinal cord, finding an undifferentiated phenotype and enrichment of interferon response microglia in aggressive cases.

Genetic and functional analysis of unproductive splicing using LeafCutter2

LeafCutter2 identifies and quantifies unproductive splicing events from RNA-seq data, revealing their role in gene regulation and disease, including Alzheimer's.

Long-read RNA-seq atlas of novel microglia isoforms elucidates disease-associated genetic regulation of splicing

The paper presents a long-read RNA-seq atlas of microglia isoforms, identifying novel isoforms and their associations with genetic risk loci in Alzheimer's and Parkinson's disease.

Early Proteasome Gene Downregulation And Impaired Proteasomes Function Underlie Proteostasis Failure In Alzheimer's Disease

This study identifies early proteasome dysfunction and transcriptional downregulation in Alzheimer's disease, contributing to proteostasis failure and neurodegeneration.

HDAC Inhibitors recapitulate Human Disease-Associated Microglia Signatures in vitro

The paper uses HDAC inhibitors to mimic human DAM in vitro and identifies shared marker genes.

Decoding polyubiquitin regulation of KV7. 1 functional expression with engineered linkage-selective deubiquitinases

This study uses engineered deubiquitinases to investigate how different polyubiquitin linkages regulate KCNQ1 functional expression and trafficking, revealing distinct roles for each linkage type.

Missense and Loss of Function Variants at GWAS Loci in Familial Alzheimer's Disease

The paper examines rare missense and loss of function variants in GWAS loci for Alzheimer's disease across families, finding that many families lack identifiable variants beyond APOE-e4.

Sex, racial, and APOE-ϵ4 allele differences in longitudinal white matter microstructure in multiple cohorts of aging and Alzheimer's disease

The paper examines how sex, race, and APOE-ε4 allele status affect white matter microstructure across multiple aging and Alzheimer's disease cohorts.

ZCCHC17 modulates neuronal RNA splicing and supports cognitive resilience in Alzheimer's disease

This study shows ZCCHC17 regulates RNA splicing in neurons and its dysfunction contributes to splicing abnormalities in Alzheimer's disease, with potential therapeutic implications.

Transcription Coupled Repair of DNA Interstrand Crosslinks by UVSSA

This study identifies UVSSA's role in transcription-coupled repair of DNA interstrand crosslinks and links its expression to chemotherapy resistance in cancer cells.

Dosage sensitivity in Pumilio1-related phenotypes reflects distinct disease mechanisms

The paper investigates how different PUM1 mutations lead to distinct phenotypes by analyzing PUM1 interactomes and showing that dosage sensitivity involves non-linear mechanisms.

Higher Angiotensin I Converting Enzyme 2 (ACE2) levels in the brain of individuals with Alzheimer's disease.

This study finds higher ACE2 levels in the brains of Alzheimer's patients, which may increase CNS SARS-CoV-2 infection risk.

SUMO2 Protects Against Tau-induced Synaptic and Cognitive Dysfunction

This study investigates the role of SUMO2/3 modification in mitigating Tau-induced synaptic and cognitive dysfunction in disease models.

Single-nucleus RNA velocity reveals synaptic and cell-cycle dysregulations missed by gene expression in neuropathologic Alzheimer disease

The paper uses RNA velocity to identify synaptic and cell-cycle dysregulations in Alzheimer's disease that are not detected by gene expression alone.

A cross-disease human microglial framework identifies disease-enriched subsets and tool compounds for microglial polarization.

This study identifies disease-enriched microglial subsets and validates compounds that modulate their states using single-cell RNA sequencing and in vitro experiments.

Subcellular proteomics of dopamine neurons in the mouse brain reveals axonal enrichment of proteins encoded by Parkinson's disease-linked genes

The paper uses subcellular proteomics to show Parkinson's disease-linked genes are enriched in axons of dopaminergic neurons in the mouse brain.

The low complexity motif of cytoplasmic polyadenylation element binding protein 3 (CPEB3) is critical for the trafficking of its targets in neurons

The paper investigates the role of CPEB3's low complexity motif in its localization to P bodies and its function in local protein synthesis in neurons.

Identification of MCM8IP, an interactor of MCM8-9 and RPA1 that promotes homologous recombination and DNA synthesis in response to DNA damage

This study identifies MCM8IP as a DNA repair factor that promotes homologous recombination and DNA synthesis in response to DNA damage by interacting with MCM8-9 and RPA1.