Jochen Hans Weishaupt

Herpes simplex virus infection promotes ALS pathology through ICP0-mediated PML body disruption

This study shows HSV infection increases ALS risk and promotes TDP-43 pathology through ICP0-mediated disruption of PML bodies.

Targeted plasma proteomics uncover novel proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders

This study identifies novel plasma proteins associated with KIF5A-linked SPG10 and ALS using targeted proteomics, revealing distinct proteomic signatures and potential biomarkers.

Somatic mutations in ALS genes in the motor cortex of sporadic ALS patients

This study identifies somatic mutations in ALS genes in the motor cortex of sporadic ALS patients, particularly in excitatory neurons, suggesting a role in disease initiation.

Identifying similar populations across independent single cell studies without data integration

The paper introduces CFS, a method to compare cell groups across datasets without integration, identifying conserved astrocyte subpopulations in mouse motor cortex and spinal cord.

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.

Clinical testing panels for ALS: global distribution, consistency, and challenges

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

Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

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.

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.

Loss of nucleoporin Nup50 is a risk factor for amyotrophic lateral sclerosis

The paper identifies NUP50 gene variants and reduced expression as risk factors for ALS through transcriptome-wide association and functional studies.