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Our report confirms that some DNAJB6 mutations cause distal-onset myopathy and hence DNAJB6 defects should be considered broadly in dominant muscular dystrophy families.
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DNAJB6 is a central and versatile player in the protein aggregation and degradation system.DNAJB6 protein keeps Parkin C289G mutant protein in a soluble, degradation-competent form.
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This study expands the molecular spectrum of DNAJB6 mutations and also emphasizes the pathogenic role of DNAJB6 dysfunction in distal-onset myopathy.
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Expression of the heat shock protein DNAJB6/MRJ was elevated in neutrophils and lymphocytes of patients with atopic dermatitis compared with healthy donors. The highest level of the DNAJB6/MRJ protein was found to be in neutrophils at acute phase of severe atopic dermatitis and gradually decline as continue to the disease.
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mRNA levels of HSP family members (HSP70B', HSP72, HSP40/DNAJ, and HSP20/CRYAB) are upregulated by the intracellular MMP3 overload.
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the cytoprotective effects of DNAJB6(S) may be mediated, at least in part, by the mitochondrial pathway of apoptosis.
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The results indicate both genetic and physical interactions between disease-linked RNA-binding proteinss and DNAJB6/mrj, suggesting etiologic overlap between the pathogenesis of adult-onset inherited myopathies initiated by mutations in hnRNPA2B1 and DNAJB6.
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LGMD1D mutations in DNAJB6 disrupt its sarcoplasmic function suggesting a role for DNAJB6b in Z-disc organization and stress granule kinetics.
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DNAJB6 mutations p.F91I and p.F91L show a significant reduction of the anti-aggregation function compared to the wild-type and p.F93L mutation
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Functional study using zebrafish embryos demonstrated that p.Phe91Leu elicits more severe muscle defects than the reported p.Phe93Leu and p.Pro96Arg mutations
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DnaJB6-protected yeast cells from polyglutamine toxicity and cured yeast of both [URE3] prions and weak variants of [PSI(+)] prions but not strong [PSI(+)] prions
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This study showed that Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
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DNAJB6a reduces AKT signaling, and DNAJB6 expression in cancer cells reduces their proliferation and growth of xenograft esophageal squamous cell tumors in mice.
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There was a positive correlation between DNAJB6 and IQGAP1 expression.
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Geneticanalysis indicated a heterozygous missense mutation of c.279C>G
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Findings suggest a novel function of HSP70/MRJ/uPAR complex in cell adhesion, invasion and migration, and may provide more understanding in the mechanisms of uPAR-mediated cancer metastasis.
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DNAJB6 G/F domain mutants disrupt the processing of nuclear TDP-43 stress granules in mammalian cells.
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DNAJB6 interacts with growing amyloid-beta 42 (Abeta42) aggregates, which leads to sub-stoichiometric inhibition of amyloid formation
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using exome sequencing, study identified a mutation in DNAJB6 in a family with limb-girdle muscular dystrophy type 1D; work further confirms the causative role of DNAJB6 mutations in limb-girdle muscular dystrophy type 1D
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DNAJB6 is a peptide-binding chaperone that can interact with polyQ peptides that are incompletely degraded by and released from the proteasome.
