Rita Sattler

Disrupted mannosidase enzymes in C9orf72 ALS/FTD

The paper identifies reduced Golgi enzymes MAN1A1 and MAN1A2 in ALS-associated microglia and astrocytes, linking impaired glycan metabolism to neuroinflammation and disease mechanisms.

C9orf72-associated G4C2 hexanucleotide repeat expression in Drosophila mushroom bodies causes age dependent TDP-43 pathology and dementia relevant phenotypes mediated in part by the glypican Dlp/GPC6

This study shows that expressing G4C2 repeats in Drosophila mushroom bodies causes age-dependent TDP-43 pathology and dementia-like phenotypes, with Dlp/GPC6 playing a role in synaptic loss.

Exploring transcriptomic and genomic latent variable correction approaches in differential expression analysis.

This paper evaluates combining expression-based surrogate variables and genotype-based principal components in differential expression analysis, finding the combined approach improves replicability and biological recall in ALS datasets.

Integrative synaptosome multi-omics reveals disrupted synapse organization and localized cryptic transcripts in C9ORF72-Frontotemporal Dementia

This study uses multi-omic profiling of synaptosomes to identify molecular changes in C9-FTD, revealing disrupted synaptic pathways and localized cryptic transcripts.

ADAR2-Mediated RNA Editing Promotes TDP-43 Nuclear Export and Alters RNA Binding

This study shows ADAR2-mediated RNA editing promotes TDP-43 nuclear export and alters its RNA binding, contributing to neurodegenerative disease mechanisms.

Cellular and molecular phenotypes of C9orf72 ALS/FTD patient derived iPSC-microglia mono-cultures

This study examines C9orf72 ALS/FTD patient-derived iPSC-microglia mono-cultures, finding they form RNA foci, have reduced C9orf72 protein, and show endosomal-lysosomal dysfunction, but no significant microglial-enriched gene expression differences.

Glycolysis upregulation is neuroprotective as a compensatory mechanism in ALS

The paper shows that increased glycolysis is neuroprotective in ALS by improving locomotion and lifespan in Drosophila models through glucose transporter and PFK overexpression.