Elena Perenthaler

Empowering multiplexed ultra-throughout ribosome profiling with RiboWich

RiboWich improves ribosome profiling by eliminating ribosome purification and enabling high-throughput, low-input translatome analysis.

Translation-specific disruption of Col1a1 expression in multiple models of Spinal Muscular Atrophy can be rescued by Risdiplam.

The paper identifies COL1A1 as a translation-specific biomarker of SMA severity and shows it can be rescued by SMN-restoring therapies in multiple models.

Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts

The paper analyzes responses to SMN2 splice-modifying treatments in SMA fibroblasts, finding variability in treatment efficacy based on patient-specific factors.

BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements

The paper develops BRAIN-MAGNET, a convolutional neural network that predicts non-coding regulatory element activity and helps prioritize disease-causing variants in neurogenetic disorders.

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

The paper identifies 39,709 differentially active enhancers in human fetal brain development linked to neurodevelopmental disorders and GWAS loci.

SMN-primed ribosomes modulate the translation of transcripts related to Spinal Muscular Atrophy

The paper shows SMN protein binds ribosomes and modulates translation of specific mRNAs in SMA, causing translational defects in motor neuron-related proteins.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

The paper identifies a recurrent start codon mutation in UGP2 causing a severe epileptic encephalopathy, showing that isoform-specific expression loss of an essential gene can lead to disease.

Functional dissection of the enhancer repertoire in human embryonic stem cells

The paper identifies functional enhancers in human embryonic stem cells using a combination of chromatin immunoprecipitation and a massively parallel reporter assay, revealing novel enhancer classes and activity patterns.

Active ribosome profiling with RiboLace

The paper introduces RiboLace, a method to isolate active ribosomes for ribosome profiling, enabling high-resolution analysis of active translation.

In vivo translatome profiling reveals early defects in ribosome biology underlying SMA pathogenesis

The paper identifies early translational defects in SMA mice, showing reduced translational efficiency and ribosome numbers in motor neurons, which are rescued by SMN restoration.