Marjo S. van der Knaap

This study shows that gene supplementation in astrocytes of Vanishing White Matter mice improves motor skills and CNS pathology without side effects.

This study shows that Mlc1-null astrocytes are softer and have altered cytoskeleton-membrane-ECM interactions, suggesting a role for mechanobiology in MLC pathogenesis.

This study investigates whether seizures exacerbate myelin vacuolization and astrocyte swelling in a mouse model of MLC, finding no significant acute worsening of these features.

This study identifies heterozygous TMEM63A variants causing transient hypomyelination in infancy, with clinical improvement over time.

This study generates human and mouse iPSC-derived grey and white matter-like astrocytes, revealing subtype-specific defects in Vanishing White Matter disease.

ISRIB ameliorates ISR deregulation and clinical signs in VWM mice.