Lorne H. Zinman

Single-nucleus transcriptome atlas of orbitofrontal cortex in amyotrophic lateral sclerosis with a deep learning-based decoding of alternative polyadenylation mechanisms

The paper constructs a single-nucleus transcriptome atlas of the orbitofrontal cortex in ALS and identifies cell-type-specific transcriptional changes, introducing a deep learning model to analyze alternative polyadenylation.

Spliformer-V2 enables multi-tissue prediction and interpretation of splice-altering genetic variants

Spliformer-V2 predicts and interprets tissue-specific effects of splice-altering variants, identifying disease-relevant genes and therapeutic targets in ALS.

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A

This paper shows C9orf72 expansions create a folate-sensitive fragile site FRA9A, leading to chromosomal instability and immune responses in patient cells and mice.

KCC2 as a novel biomarker and therapeutic target for motoneuron degenerative disease

This study identifies KCC2 as an early biomarker and therapeutic target for ALS by showing its downregulation in motor neurons and the ability of KCC2-enhancing compounds to delay disease progression.

Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS-like phenotype and Complex I deficiency independent of the mt-ISR

This study shows that loss of Chchd10 or Chchd2 in zebrafish causes ALS-like symptoms and Complex I deficiency, with double KO showing more severe effects and mt-ISR activation.

Investigating the Contribution of White Matter Hyperintensities and Cortical Thickness to Empathy in Neurodegenerative and Cerebrovascular Diseases

This study examines the relationship between white matter hyperintensities, cortical thickness, and empathy in neurodegenerative and cerebrovascular diseases, finding associations with specific brain regions and demographic factors.

TDP-43 stabilizes transcripts encoding stress granule protein G3BP1: potential relevance to ALS/FTD

This study shows TDP-43 stabilizes G3BP1 transcripts via direct binding, and TDP-43 depletion reduces G3BP1 protein levels, contributing to stress granule dysfunction in ALS/FTD.

FUS gene is dual-coding with both proteins united in FUS-mediated toxicity

The paper identifies an alternative open reading frame (altORF) within the FUS gene that contributes to toxicity in neurodegenerative models.

Cerebral Atrophy in Amyotrophic Lateral Sclerosis Parallels the Pathological Distribution of TDP43

This study uses MRI to show cerebral atrophy patterns in ALS patients, linking them to clinical disability and a proposed pathological staging model.