Rüstem Yilmaz

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.

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.

The Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.

This study shows that Ube3b regulates dendritic branching and synaptic function by ubiquitinating Ppp3cc, contributing to intellectual disability-like phenotypes in a KOS mouse model.