Rocío Bengoechea

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.

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.