Martin Biel

Gene Supplementation of MYO7A or activation of Myo7b for treatment of Usher syndrome 1B

This study evaluates gene supplementation of MYO7A via dual AAVs and CRISPR/Cas activation of Myo7b in animal models and human retinal organoids to treat Usher syndrome 1B.

CCZ1 is a modulator of TPC2 activity and melanoma cell migration

This study identifies CCZ1 as a modulator of TPC2 activity and shows its role in regulating melanoma cell migration through interactions with RAB7a.

Differential contribution of HCN1 and HCN4 to the synchronisation of sinoatrial pacemaker cells

This study investigates the roles of HCN1 and HCN4 in synchronizing sinoatrial pacemaker cells, finding HCN1 is essential for fast synchronisation while HCN4 is not.

Crosstalk between the Methyl-Cytosine Dioxygenase TET3 and the Methyl-CpG-binding protein MECP2 Controls Neuronal Maturation

The paper shows TET3 and MECP2 interact to regulate neuronal maturation, with TET3 critical for functional development and MECP2 inhibiting TET3 activity.

CRISPRa-mediated activation of genes associated with inherited retinal dystrophies in acutely isolated human cells for diagnostic purposes

The paper uses CRISPRa to activate IRD-linked genes in PBMCs to detect transcripts for improved genetic diagnosis of inherited retinal dystrophies.

Human variation impacting MCOLN2 restricts Salmonella Typhi replication by magnesium deprivation

The paper identifies genetic variation in MCOLN2 that limits Salmonella Typhi replication via magnesium deprivation in human cells.