Ludger J. Schöls

This paper reports the deepest human axonal proteome to date using microfluidic separation and DIA-MS on iPSC-derived neurons, identifying axon-enriched proteins and disease-related pathways.

This study evaluates AAV transduction efficiency and toxicity across human iPSC-derived neuronal subtypes, identifying optimal serotypes for gene delivery in vitro.

The paper introduces a mass spectrometry sterolomic library to aid in diagnosing cholesterol-related inherited disorders by analyzing sterol profiles from 13 autosomal recessive disorders and predicting data for 8 more.

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

This study develops human organoid models of PCH2a to investigate brain region-specific pathology, finding size reductions in cerebellar organoids and altered proliferation kinetics.

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

This study uses microfluidic RNA-seq to analyze axonal transcriptomes from iPSC-derived neurons, revealing unique transcriptional features and highlighting the role of KIF1C in axonal health and neurodegeneration.

The paper identifies and compares the abundance of ATXN3 splice variants in blood and cerebellum of SCA3/MJD patients and controls, finding tissue-specific expression patterns of full-length ataxin-3 isoforms.