Jinhui Ding

The paper integrates cell-specific gene expression and chromatin accessibility to identify neurodegenerative disease risk loci specific to microglia.

SALRR provides a scalable platform for long-read RNA-seq analysis, identifying novel splice variants in human brain tissue.

This study uses snRNA-seq to analyze age-related transcriptional changes in four brain regions across young and aged individuals, identifying region-specific age-associated genes and biological processes.

This study shows that disrupting NMDA receptor-mediated glutamatergic input to ALDH1A1+ dopaminergic neurons causes sex-specific feeding abnormalities linked to Parkinson's disease.

The paper shows that inflammatory signaling affects LRRK2 regulation differently in human and mouse models, highlighting species-specific regulatory mechanisms.

The paper uses single-cell RNA sequencing to assess the impact of Lrrk2 mutations on neuroinflammation in mice, finding limited transcriptional effects.

The paper uses long-read sequencing to identify structural variants and their impacts on gene expression and methylation in diverse human brain samples.

The paper shows that DNA methylation is reset in iPSCs compared to donor PBMCs, with unique methylation sites influenced by genetics in each cell type.

This study identifies 3,154 high-confidence structural variants in Parkinson's disease using short-read sequencing and validates some with long-read data, highlighting limitations of short-read methods.

REViewer visualizes sequencing data around long repeat expansions by reconstructing haplotypes and aligning reads, improving the assessment of repeat genotype calls and detecting interruptions.

This study shows that deficiency in DAGLB, an endocannabinoid synthase, contributes to Parkinson's disease by impairing dopaminergic neuron function and motor learning, with potential therapeutic implications for 2-AG augmentation.

This study identifies Auxilin mutations as a cause of Parkinson's disease by showing they impair clathrin-mediated trafficking at the Golgi and synapse, leading to neuropathological lesions.

This study shows THAP1 regulates oligodendrocyte maturation by controlling lysosomal degradation of glycosaminoglycans in OPCs.

The paper introduces a web browser for Parkinson's disease genomic data, aggregating results from 102,127 participants to aid in identifying risk genes and variants.

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

The paper identifies de-novo SPTLC1 mutations in juvenile ALS patients and suggests serine supplementation may alleviate symptoms.

The paper identifies pathway-specific polygenic risk factors and transcriptomic networks associated with Parkinson disease using large-scale genetic and expression data.

The paper identifies common LRRK2 locus variation associated with survival in progressive supranuclear palsy, linking it to gene expression regulation and suggesting therapeutic implications for tauopathies.

This study identifies shared genetic loci between multiple system atrophy and inflammatory bowel disease using conjFDR, highlighting immune and gut-related molecular mechanisms.