Adrian Higginbottom

Astrocyte dysfunction distinguishes monozygotic twin C9orf72 expansion carriers discordant for amyotrophic lateral sclerosis.

This study identifies distinct astrocyte states in C9orf72 expansion carriers discordant for ALS, linking epigenetic changes, stress, and functional dysfunction to disease onset.

Co-aggregation with Apolipoprotein E modulates the function of Amyloid-β in Alzheimer's disease

The paper shows that apoE isoforms modulate Aβ aggregation, clearance, and toxicity in Alzheimer's disease, with implications for therapeutic strategies.

GRASPS: a simple-to-operate translatome technology reveals omics-hidden disease-associated pathways in TDP-43-related amyotrophic lateral sclerosis

GRASPS identifies more differentially expressed transcripts with higher fold changes and significance in TDP-43 ALS models, revealing previously missed disease pathways.

A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export suppresses neurodegeneration

This paper develops a cell-penetrant peptide that blocks C9ORF72-repeat RNA nuclear export, reducing neurodegeneration in preclinical models of ALS and FTD.

GLT8D1 mutations cause amyotrophic lateral sclerosis via disruption of neurotrophin signalling within membrane lipid rafts

This paper identifies GLT8D1 mutations as a cause of ALS by disrupting neurotrophin signaling in lipid rafts through reduced ganglioside expression.

Spatio-temporal Proteomic Analysis of Stress Granule disassembly using APEX Reveals Regulation by SUMOylation and links to ALS pathogenesis

This study uses APEX proximity-proteomics to analyze the spatio-temporal proteomic changes during stress granule disassembly, identifying novel proteins and revealing SUMOylation's role in ALS pathogenesis.