Impaired DNAJB2 Response to Heat Shock in Fibroblasts from a Neuropathy Patient with <i>DNAJB2/HSJ1</i> Mutation: Cystamine as a Potential Therapeutic Intervention.

ABSTRACT: Background and Objectives: Neuropathy is a debilitating disorder characterized by peripheral nerve dysfunction and damage to sensory, motor, and autonomic neurons and their axons. While homozygous mutations in DNAJB2/HSJ1 have been linked to early-onset neuropathy, a heterozygous DNAJB2 c.823+6C>T was discovered in an adult patient with severe sensory-motor polyneuropathy. This mutation is predicted to affect both isoforms of the protein. DNAJB2 (HSP40), a key member of the heat shock protein family, plays a critical role in cellular protection and stress, including response to heat shock. DNAJB2 traffics unfolded proteins to another heat shock protein, HSP70, and activates its ATPase activity to result in a correctly folded protein(s). In this study, we aimed to investigate the eff

SUBMITTER: Pradhan RK 

PROVIDER: S-EPMC12113656 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature