Catriona McLean

This study profiles bioenergetic changes in fresh human kidney tissue from diabetic patients with preserved function, revealing compensatory metabolic adaptation and intrinsic mitochondrial dysfunction.

The paper uses long-read sequencing to identify novel RNA isoforms in neuropsychiatric risk genes, revealing previously undetected exons and isoforms that may contribute to disease mechanisms.

The paper uses Oxford Nanopore DRS to profile m6A modifications at the isoform level in human brain regions, identifying thousands of m6A sites and region-specific patterns.

The paper quantifies post-translational modifications of Aβ in brain tissue to distinguish amyloidosis stages in Alzheimer's Disease and related conditions.

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.

This study uses whole-genome sequencing to identify new genetic loci and structural variants associated with progressive supranuclear palsy, including novel signals in APOE and H1/H2 haplotype region variants.

The paper investigates copper availability in sporadic ALS and suggests CuII(atsm) may be therapeutically relevant by improving copper bioavailability.

This study shows that microglial ferroptotic stress leads to non-cell autonomous neuronal death in ALS, with a novel inhibitor reducing neurotoxicity.

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

The paper compares ubiquilin 2 and TDP-43 aggregate distribution in UBQLN2-linked and sporadic ALS/FTD cases across the CNS.

The paper analyzes somatic mutations in neurons and oligodendrocytes from MS patients, finding increased DNA damage linked to inflammation.

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.

This study shows that cortical hyperexcitability in mice leads to ALS-like motor symptoms and pathology through a dying-forward mechanism.

This study evaluates a polygenic risk score for breast cancer in women aged 70 and older, finding it improves risk prediction beyond conventional factors.

This study characterizes the lipid composition of brain-derived extracellular vesicles (BDEVs) in Alzheimer's disease and identifies disease-related lipid profile changes.

This paper describes a protocol for simultaneous detection of coding and non-coding transcripts using modified RNA-Seq techniques, showing high efficiency in rRNA depletion and accurate transcript quantification.

This study identifies that amyloid plaque phagocytosis through Hif1α controls microglial phenotypes in Alzheimer’s disease in both mice and humans.

This paper creates a single-cell brain atlas of Alzheimer’s disease, identifying cell-type specific gene expression patterns and regulatory networks associated with disease.