Conrad Chris Weihl

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

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

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.

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

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

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

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.

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

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

The paper investigates how novel mutations in the J domain of DNAJB6 affect chaperone function in yeast, linking these changes to the pathogenesis of LGMDD1.