Silvère M. van der Maarel

This study investigates how valency and epitope specificity of MuSK antibodies affect MuSK signaling, revealing distinct impacts on binding kinetics, Dok7 binding, and gene expression.

This study identifies a stabilized PABPN1 variant, trPAB, that reduces aggregation and restores function in OPMD and bladder cancer models, supporting its potential as a gene therapy.

This study identifies distinct transcriptional programs in human IgG4+ memory B cells, revealing unique features and potential therapeutic targets.

The paper introduces Kivvi, a tool to genotype D4Z4 repeats using HiFi sequencing, enabling accurate detection of FSHD-related alleles and revealing genetic diversity across populations.

The paper identifies a specific D4Z4 sequence that can epigenetically silence a reporter gene, revealing key regulators and mechanisms of DUX4 repression in skeletal muscle.

This study shows that the MuSK agonist antibody ARGX-119 can rescue MuSK myasthenia gravis in a patient-specific manner, with efficacy linked to the presence of MuSK activating antibodies in some patients.

This study shows that Lrif1 interacts with Trim28 to repress Dux in mouse embryonic stem cells, linking it to FSHD2 pathogenesis.

This study shows SUMOylation of SMCHD1 regulates its function at different genomic loci, affecting chromatin structure and DUX4 expression in FSHD.

This study identifies a mutation in SMCHD1 that enhances gene silencing and disrupts developmental processes, revealing distinct roles of SMCHD1 in chromatin structure and gene regulation.

The paper validates the association between MRI characteristics and gene signatures in FSHD muscle, supporting their use as biomarkers for clinical trial design.

The paper characterizes HNRNPA1 mutations in patients with neurodegenerative diseases, showing varied effects on fibrillization, phase separation, and stress granule dynamics.

This study identifies DUX4-induced bidirectional HSATII satellite repeat transcripts that form intranuclear dsRNA foci contributing to FSHD toxicity.