Richard L. M. Faull

The paper identifies BCL-XL as a potential regulator of the neurovascular unit in Parkinson's disease through systematic screening of -Synuclein strain responses in pericytes.

The paper shows that loss of interruption in HTT CAG repeats increases somatic expansion and MSN loss in HD, with greater effects in patients with CAG-CCG LOI.

This study examines the immunophenotypic and ubiquitination diversity of Huntingtin inclusion bodies in Huntington's disease cerebral cortex, revealing heterogeneity in composition and degradation pathways.

This study shows that microglial morphology changes before immunophenotype shifts in ALS, driven by TDP-43 aggregation, suggesting morphological changes may trigger immunological responses.

This paper performs a meta-analysis of UBQLN2 genetic variants in ALS/FTD, finding sex-specific differences in age at onset and aggregate burden in brain tissue.

This study identifies huntingtin as an RNA-binding protein that interacts with G-rich RNA sequences, including those in the NEAT1 paraspeckle lncRNA.

This study identifies TDP-43 dysfunction and reduced m6A modification as mechanisms causing aberrant splicing in Huntington's disease using mouse and human brain data.

The paper identifies TDP-43-regulated splicing events in ALS brain tissue and validates them as markers of TDP-43 loss of function using in vitro models and bulk RNA-sequencing.

The paper identifies transcriptional upregulation of glutamate receptors and downregulation of oxidative phosphorylation in an ovine HD model before neuronal loss and motor symptoms.

This study examines microglial activation and TDP-43 pathology in ALS brains, finding increased CD68 and L-ferritin expression in human and mouse models linked to pTDP-43 aggregation.

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

The paper investigates the roles of canonical and alternative RPA in CAG repeat diseases, finding that Alt-RPA antagonizes RPA's suppression of CAG expansions, contributing to disease pathogenesis.

This study shows human pericytes degrade different strains of alpha-synuclein aggregates in vitro, with varying efficiency depending on the strain and origin of the pericytes.

This study screens antibodies against huntingtin (Htt) to analyze Htt distribution and aggregates in HD brain tissue, finding correlations between CAG repeat length and Htt aggregation, but not neuronal loss.

The paper identifies a hippocampal protein aggregation signature that distinguishes pathogenic from wildtype UBQLN2 in ALS/FTD cases.

This study shows that microglia and complement proteins drive early synapse loss and cognitive deficits in Huntington's disease by eliminating corticostriatal synapses, and that targeting this pathway can prevent these effects.

The paper examines whether blood-spinal cord barrier breakdown correlates with motor neuron loss and TDP-43 proteinopathy in ALS, finding they have distinct regional patterns.

The paper identifies cardiac glycosides as regulators of neuroinflammatory pathways in brain-barrier tissues using in vitro and ex vivo human models.

This study identifies TBK1 as a kinase that phosphorylates mutant huntingtin, reduces its aggregation and toxicity in multiple HD models.

This study identifies region-specific protein expression changes in human Alzheimer’s brains, revealing disease severity gradients and protective profiles in the cerebellum.