Thomas E. Willnow

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.

This study shows that impaired astrocyte stress response to amyloid-beta activates delta secretase, leading to amyloid and tau pathologies in Alzheimer's disease.

The paper shows SorLA restricts TNFα release from microglia, reducing their anti-tumor response and promoting glioma growth.

The paper characterizes spatial and temporal expression patterns of VPS10P domain receptors in human cerebral organoids using single-cell RNA sequencing.

This study identifies SORCS2's role in pancreatic islet stress response, showing its importance in glucose-stimulated insulin release and metabolic health.

This study identifies LRP2's role in maintaining sonic hedgehog-dependent cardiac progenitor cells during outflow tract formation, leading to conotruncal malformations when disrupted.

This study shows that Cdon mutation and fetal alcohol exposure interact through Nodal signaling to cause holoprosencephaly in mice.

This study shows apoE4 disrupts sortilin's role in neuronal lipid metabolism and endocannabinoid signaling, contributing to Alzheimer's disease risk.

This study identifies SorCS2 as a regulator of EAAT3 trafficking that protects neurons from oxidative stress and epilepsy-induced damage.

The paper uses single-cell RNA-seq to characterize cell types in the adult mouse subventricular zone and identifies molecular defects in LRP2-deficient mice affecting neurogenesis.