Georg W. J. Auburger

This study shows that ATXN2 polyglutamine expansion impairs QKI-dependent alternative splicing and oligodendrocyte maintenance in a mouse model of SCA2.

The paper identifies SERPINB1 as a potential biomarker for SCA2 progression through multi-omics analysis in mice and validation in human patients.

This study identifies ATXN2L interactors and shows that its absence leads to NUFIP2 depletion, while ATXN2-polyQ expansion causes NUFIP2 accumulation.

This study identifies ATM's role in regulating vesicular protein secretion through CHGA and microtubule dynamics via CRMP5 in neurons, linking A-T neural atrophy to growth cone collapse.

The paper analyzes the phosphoproteome and interactome of a SCA2/ALS13 mouse model to identify altered signaling and protein interactions linked to neurodegeneration.

This study investigates how structured and disordered regions of Ataxin-2 influence mRNP granule formation and neurodegeneration in Drosophila and human models.

The paper identifies CLPP-deficiency-induced changes in mitochondrial translation and respiration, linking them to hearing loss in Perrault syndrome type 3.

This study examines an SCA2 mouse model to identify molecular mechanisms of spinal cord pathology, finding progressive TDP43 aggregation and cholesterol biosynthesis suppression.

This study shows that reducing huntingtin protein levels decreases somatic instability in CAG-expanded loci in both mouse models and human neurons.

The paper examines common genetic variants' contribution to bipolar disorder risk in multiplex families and finds higher polygenic risk scores in affected individuals compared to controls and unaffected family members.

The paper identifies reduced Reelin pathway components in Ataxia Telangiectasia, linking them to cerebellar neurodegeneration and suggesting potential therapeutic targets.

This paper describes a novel SCA2 mouse model with CAG100 expansion in Atxn2, showing reduced lifespan and vestibulo-cerebellar dysfunction due to axon-myelin disconnection.