Jonathan Brenton

Alternative Splicing Directs PMCA2 to Lysosomes and is Linked to Neurodegeneration

The paper identifies a splice variant-dependent localization of PMCA2 to lysosomes and links it to neurodegenerative diseases.

A molecular map of the living human brain from quantitative MRI

This paper introduces a non-invasive imaging framework combining qMRI and SRT to infer molecular features in neurodegeneration.

TDP-43 loss of function drives aberrant splicing in Parkinson's disease

The paper identifies splicing dysregulation in Parkinson's disease linked to TDP-43 loss of function and shows its association with genetic mutations and cellular models.

Microglial activation and alpha-synuclein oligomers drive the early inflammatory phase of Parkinson's disease

The paper identifies microglial activation and alpha-synuclein oligomers as drivers of early neuroinflammation in Parkinson's disease using transcriptomic and aggregate profiling in early-stage brain samples.

17q21.31 locus regulates Parkinson's disease relevant pathways through KANSL1 activity

The paper investigates how the 17q21.31 locus influences Parkinson's disease through KANSL1 activity, showing haplotype-specific effects on key biological processes.

Molecular and cellular signatures differentiate Parkinson's disease from Parkinson's disease with dementia

This study compares molecular and cellular signatures of Parkinson's disease and Parkinson's disease with dementia using single-nuclear transcriptomics, finding distinct gene expression patterns and biological pathways.

Splicing accuracy varies across human introns, tissues and age

The paper examines mis-splicing across human introns, tissues, and age using RNA-sequencing data, finding correlations with spliceosome components and age-related neurodegenerative disease genes.

Transcriptomic analysis of repeat expansion-ataxias uncovers distinct non-neuronal cell type-specific signatures of disease across the human brain

This study uses bulk and single nuclear RNA-sequencing to analyze transcriptomic changes in repeat expansion ataxias, revealing distinct non-neuronal cell type-specific disease signatures across the human brain.

The annotation and function of the Parkinson's and Gaucher disease-linked gene GBA1 has been concealed by its protein-coding pseudogene GBAP1

The paper shows that sequencing ambiguity between GBA1 and its pseudogene GBAP1 affects transcriptomic analysis, revealing non-lysosomal functions in the brain and widespread annotation inaccuracies.

Network nature of ligand-receptor interactions underlies disease comorbidity in the brain

The paper investigates ligand-receptor interactions (LRIs) in neurological diseases and finds that 96.8% of disease-associated LRIs are interconnected, highlighting their role in disease comorbidity and potential drug targets.

Genetic variability in response to Aβ deposition influences Alzheimer’s risk

The paper identifies 5 new Alzheimer's risk loci by comparing mouse amyloid microglial response with human GWAS gene-based SNPs.