Herma C. van der Linde

This study shows that TMEM106B affects myelination through a TFEB-dependent pathway in zebrafish, and TFEB inhibition rescues myelin defects caused by TMEM106B mutations.

This study identifies bi-allelic XPNPEP3 variants causing mitochondrial disease with pediatric cardiomyopathy, revealing impaired mitochondrial protein processing as the underlying mechanism.

This study shows TMX2 is essential for newborn neuron survival during zebrafish embryonic brain development, with loss causing rapid cell death and calcium dysregulation.

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

The paper studies macrophage development in zebrafish lacking CSF1R, finding developmental arrest and the emergence of Csf1r-independent metaphocytes.

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.

The paper uses a CRISPR/Cas9 screen in zebrafish to identify Il34 as a factor facilitating yolk sac macrophage distribution and brain colonization.