Claire Troakes

The paper analyzes somatic mutations in neurons from FTLD-TDP type C patients and controls, finding extensive low-frequency variants in TARDBP and other genes.

The paper evaluates gene expression-based ALS subtypes across brain and blood tissues using machine learning, finding three subtypes with consistent classification in both tissues.

The paper shows that diabetes status affects mitochondrial DNA copy number changes in AD brain regions, with non-diabetic AD cases showing reduced mtDNA-CN and diabetic cases showing increased mtDNA-CN.

The paper evaluates 23 commercial antibodies for detecting FET proteins, identifies specific ones, and provides a validated panel for reliable research.

This study identifies NSUN1-mediated m5C RNA methylation as a driver of TDP-43 cytoplasmic accumulation and neurotoxicity in ALS/FTD.

This study compares Oxford Nanopore long-read sequencing with Illumina short-read sequencing and microarrays across 14 human genomes, finding LRS has competitive accuracy for SNVs and superior performance for structural variants.

This study identifies six genetic loci associated with progressive supranuclear palsy, including a novel locus, and links them to oligodendrocytic dysfunction and C4A expression.

This study shows that tau aggregates from Alzheimer's disease brains are taken up and processed by human astrocytes, with differences in handling linked to astrocyte responses and gene expression changes.

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.

This study investigates TMCC2 expression and localization in human brains, finding its association with Alzheimer's disease pathology and suggesting a role in apoE's impact on AD pathogenesis.

The paper shows that HCN channel dysfunction is linked to tauopathies, with altered synaptic structure and function in Alzheimer's and Tau35 mouse models.

This study investigates how amisulpride interacts with GLUT1 at the blood-brain barrier and how Alzheimer's disease affects this transport mechanism.

This paper performs a large meta-analysis of GWAS in dementia with Lewy bodies, identifying sex-specific genetic risk signals and highlighting the need for larger cohorts.

This study shows that astrocytic CXCL1 contributes to Aβ-induced tau mislocalization and synaptotoxicity via CXCR2, suggesting it as a therapeutic target in Alzheimer's disease.

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

This study shows that BIN1 loss in Alzheimer's disease leads to tau mislocalization and altered synaptic structure and tau release.

The paper identifies 148 HERVs associated with schizophrenia risk using comprehensive annotation and RNA-sequencing data from brain samples.

This study compares transcriptomic profiles of asymptomatic and symptomatic Alzheimer's brains to identify early molecular changes associated with disease vulnerability.

This study estimates the heritability of dementia with Lewy bodies (DLB) and finds it to be higher than previous estimates, with low variance explained by polygenic risk scores from Parkinson's or Alzheimer's disease.

This study identifies NT5C2 as a psychiatric risk gene, showing its role in protein translation and AMPK signaling in neural progenitor cells and Drosophila melanogaster.

This study identifies widespread H3K27ac acetylomic variation in AD cases compared to controls, linking it to disease-related pathways and AD-associated genetic variants.