Heather L. True

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 disrupting the NAC reduces polyglutamine aggregation and toxicity in cells.

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.

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.