Ina‐Maria Rudolph

This study develops a scalable neuromuscular organoid platform to analyze drug responses in spinal muscular atrophy, showing distinct muscle and neuronal responses to SMN2 splicing modulators.

This paper shows that rs11218343 affects SORL1 expression in microglia, with increased expression linked to reduced inflammation, but the variant itself is not directly functional.

The paper shows sortilin mediates neuronal uptake of fatty acids via apoE, enabling their use as metabolic fuel, but this pathway is disrupted by apoE4, linked to Alzheimer's risk.

This study identifies a novel role for SORLA in regulating exosome release and neurotrophic function, linking SORL1 mutations to Alzheimer's disease pathology.