Ian P. Blair

This study identifies SFPQ as a contributor to TDP-43 pathology through a bidirectional feedback loop, showing SFPQ dysregulation drives TDP-43 mislocalization and aggregation.

This study examines ZFHX3 GGC repeat expansions in ALS and finds no association with disease risk, but identifies diverse repeat motif compositions.

This study uses zebrafish models to show that human TDP-43 overexpression in motor neurons causes MND-like phenotypes through gain-of-function mechanisms, with distinct effects based on TDP-43 variant.

The paper investigates wild-type SOD1 misfolding in Parkinson's disease using proteomics and a novel mouse model, showing mismetallation and altered post-translational modifications contribute to pathology and dopamine neuron degeneration.

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.

The paper evaluates the variability in ALS clinical genetic testing panels globally, finding inconsistent gene inclusion and potential diagnostic challenges.

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

This study uses molecular dynamics and clinical data to show structural and dynamic differences between WTL and MBR SOD1 variants, linking these to distinct ALS clinical outcomes.

This study identifies 690 candidate ALS genes using a hierarchical Bayesian model, highlighting genetic convergence on the distal axon and functional significance in motor neurons.

This study examines SFPQ dysregulation in ALS patients, finding increased intron retention, reduced mRNA expression in motor cortex, and cytoplasmic aggregates.

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

The paper identifies cyclin F interactors using BioID and shows that ALS/FTD-associated cyclin F mutations disrupt paraspeckle protein homeostasis, particularly RBM14 levels in patient tissue.

TRIBES detects genomic relatedness up to 7th degree relatives and identifies disease susceptibility loci using a single pipeline.