Claudia Scheckel

ELAVL3 regulates splicing of RNAs encoding synaptic signaling proteins in D1 and D2 striatal medium spiny neurons.

The paper identifies ELAVL3 as a key RNA-binding protein regulating alternative splicing of synaptic signaling proteins in D1 and D2 striatal medium spiny neurons.

Prion diseases disrupt the glutamate/glutamine metabolism in skeletal muscle

This study identifies GLUL upregulation and altered glutamate/glutamine metabolism in prion-infected skeletal muscle, distinct from other neurodegenerative diseases.

Dimeric prion protein ligand activates Adgrg6 but does not rescue myelinopathy of PrP-deficient mice

This study tests a dimeric prion protein ligand as a therapy for peripheral demyelination but finds it fails to rescue myelinopathy in PrP-deficient mice.

Prions induce minor genome-wide translational changes in neurons compared to glia

This study uses ribosome profiling to show that prion disease causes minor translational changes in neurons but significant changes in glia, overlapping with other neurodegenerative diseases.

Genome-wide transcriptomics identifies an early preclinical signature of prion infection

The paper identifies early molecular changes in prion-infected mice, suggesting glial pathophysiology as a key driver and potential targets for intervention.

Whole-genome deep learning analysis reveals causal role of noncoding mutations in autism

The paper uses deep learning to analyze whole-genome data from ASD families, showing noncoding mutations significantly impact transcriptional and post-transcriptional regulation and contribute to autism.