Sara K. Pittman

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.

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.

Distinct chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4

The paper identifies a DNAJB4 variant causing chaperonopathy in skeletal muscle, leading to muscle weakness and specific pathological features in type 1 fibers.

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.

VCP protects neurons from proteopathic seeding

This study identifies VCP as a suppressor of proteopathic seeding and shows that VCP dysfunction increases seeding of multiple aggregates, contributing to neurodegeneration.