Jil Daw

VCP is a critical component for TDP-43 disaggregase activity in skeletal muscle

This study investigates how VCP mutations affect TDP-43 aggregate clearance in skeletal muscle, finding reduced clearance capacity in vitro and in vivo.

Mutations in Hsp40 co-chaperone change the unique canonical inter-domain interactions stimulating LGMDD1 myopathy

The paper investigates how mutations in the J-domain of DNAJB6 affect chaperone function and inter-domain interactions, providing mechanistic insights into LGMDD1 myopathy.

Seeding competent TDP-43 persists in human patient and mouse muscle

This study shows that TDP-43 aggregate seeds persist in both mouse and human skeletal muscle even after the removal of large TDP-43 inclusions.

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.

DNAJB6 Isoform Specific Knockdown: Therapeutic Potential for LGMDD1

This study investigates DNAJB6 isoform-specific knockdown as a potential therapy for LGMDD1, showing that reducing DNAJB6b levels in a mouse model corrected proteomic disease signatures.

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

The paper identifies DNAJB4 loss of function variants causing a myopathy with early respiratory failure through exome sequencing and functional studies.