Victoria Boock

Characterization of the frameshift c.515dupC knock-in mouse model of HSPB8-associated myopathy (MFM13) and evaluation of Trehalose as autophagy modulating therapy.

This study characterizes a HSPB8 knock-in mouse model of MFM13 and evaluates trehalose as a potential autophagy modulating therapy for HSPB8-related myopathy.

Antisense oligonucleotides targeting Valosin-containing protein improve muscle pathology and molecular defects in cell and mouse models of multisystem proteinopathy.

This study shows that antisense oligonucleotides targeting VCP reduce disease pathology and improve muscle function in cell and mouse models of multisystem proteinopathy.

Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease

This study shows that ASO-mediated Gys1 knockdown in a mouse model of Pompe disease reduces glycogen accumulation and improves motor function, both alone and in combination with ERT.