Jonathan D. Glass

Sex-dependent DNA methylation in amyotrophic lateral sclerosis

The paper identifies seven sex-dependent differentially methylated positions in ALS blood samples, suggesting sex-specific biological mechanisms in the disease.

TDP-43 dysfunction induces cryptic circular RNAs in ALS/FTD

This study identifies TDP-43 dysfunction as a cause of cryptic circular RNA formation in ALS/FTD, showing their association with disease-relevant protein loss and potential as biomarkers.

Molecular Subtyping Based on Hippocampal Cryptic Exon Burden Reveals Proteome-wide Changes Associated with TDP-43 Pathology across the Spectrum of LATE and Alzheimer's Disease

This study identifies molecular subtypes based on cryptic exon burden in hippocampal tissue, revealing proteomic changes linked to TDP-43 pathology in LATE and Alzheimer's disease.

Network Analysis of the Cerebrospinal Fluid Proteome Reveals Shared and Unique Differences Between Sporadic and Familial Forms of Amyotrophic Lateral Sclerosis

The paper identifies proteomic differences in cerebrospinal fluid between sporadic and familial ALS subtypes using network analysis and validates biomarkers across neurodegenerative diseases.

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.

TDP-43 toxic gain of function links ALS, FTD and Alzheimers Disease through splicing dysregulation

This study identifies TDP-43-driven splicing dysregulation as a common mechanism in ALS, FTD, and Alzheimer's disease, linking them through mis-spliced mRNAs like APP.

Towards a diagnostic test for sporadic ALS utilising deep learning and SNP microarrays

This paper develops a deep learning model using SNP microarray data to predict ALS risk with high accuracy across diverse populations and genotyping platforms.

pTDP-43 levels correlate with cell type specific molecular alterations in the prefrontal cortex of C9orf72 ALS/FTD patients

The paper identifies cell type-specific molecular changes in the prefrontal cortex of C9orf72 ALS/FTD patients correlated with pTDP-43 levels.

The oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling, and therapeutic implications

The paper investigates oligogenic risk in ALS using genome sequencing data, finding that multiple rare variants in known ALS genes increase disease risk but not clinical outcomes.

Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis

The paper identifies sex-associated DNA methylation differences in ALS using a large-scale epigenome-wide association study and links them to survival outcomes.

Computing Linkage Disequilibrium Aware Genome Embeddings using Autoencoders

The paper introduces a method to compress genetic data using autoencoders that leverage linkage disequilibrium structure, achieving high reconstruction accuracy while reducing data size.

Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD

The paper shows that loss of TDP-43 function leads to the expression of de novo proteins from mis-spliced mRNA transcripts in ALS/FTD.

Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts

This study analyzes genetic and clinical data from PLS patients to assess the role of genetic testing and identify potential disease-associated variants.

Large-scale Analyses of CAV1 and CAV2 Suggest Their Expression is Higher in Post-mortem ALS Brain Tissue and Affects Survival

The paper analyzes CAV1 and CAV2 expression in ALS brain tissue and finds higher expression in ALS patients, associated with increased survival and slower disease progression.

Mutations in the tail domain of the neurofilament heavy chain gene increase the risk of amyotrophic lateral sclerosis

This study identifies NEFH tail domain mutations as risk factors for ALS through meta-analysis and variant burden analysis in case-control studies and whole-genome sequencing data.

Genome-wide association study of autopsy-confirmed Multiple System Atrophy identifies common variants near ZIC1 and ZIC4

ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain of function

This study shows that KIF5A ΔExon27 mutant causes neuronal toxicity through gain of function by forming aggregates and increasing motor activity.

Genome-wide Identification of the Genetic Basis of Amyotrophic Lateral Sclerosis

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.

Genome-wide association study and functional validation implicates JADE1 in tauopathy

This study identifies JADE1 as a novel genetic factor in tauopathy through genome-wide association and functional validation in human and Drosophila models.

Integrated Proteomics Reveals Brain-Based Cerebrospinal Fluid Biomarkers in Asymptomatic and Symptomatic Alzheimer’s Disease

The paper identifies brain-linked CSF biomarkers in Alzheimer’s disease using proteomics, revealing altered levels in both brain and CSF across different disease stages.

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Project MinE analyzes whole-genome sequencing data from ALS patients and controls to study genetic variation and its implications for disease susceptibility.