Article

DNAJB6 Isoform Specific Knockdown: Therapeutic Potential for LGMDD1

2022-11-17

Abstract excerpt

Dominant missense mutations in DNAJB6, an HSP40 co-chaperone, cause limb girdle muscular dystrophy (LGMD) D1. No treatments are currently available. Two isoforms exist, DNAJB6a and DNAJB6b, each with distinct localizations in muscle. Mutations reside in both isoforms, yet evidence suggests only DNAJB6b is responsible for disease pathogenesis. Mechanistic data supports either a toxic gain of function, a dominant ne...

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Literature Corpus work: befdd354-488e-5fb1-95c6-fa8c2f6c9577
DOI: 10.1101/2022.11.17.516920

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