anti-DnaJ (Hsp40) Homolog, Subfamily B, Member 6 (DNAJB6) Antibodies

Human DnaJ (Hsp40) Homolog, Subfamily B, Member 6 (DNAJB6) interaction partners

1. Our two cases lie within the phenotypic spectrum of previously reported LGMD1D phenotypes. Additionally, our native Saudi Bedouin patients harbored a mutation c.C287T (p.P96L) in the DNAJB6 gene.

2. DnaJB6 binds to smaller polyQ aggregates to block their toxicity.

3. Our report confirms that some DNAJB6 mutations cause distal-onset myopathy and hence DNAJB6 defects should be considered broadly in dominant muscular dystrophy families.

4. 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.

5. This study expands the molecular spectrum of DNAJB6 mutations and also emphasizes the pathogenic role of DNAJB6 dysfunction in distal-onset myopathy.

6. 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.

7. mRNA levels of HSP family members (HSP70B', HSP72, HSP40/DNAJ, and HSP20/CRYAB) are upregulated by the intracellular MMP3 overload.

8. the cytoprotective effects of DNAJB6(S) may be mediated, at least in part, by the mitochondrial pathway of apoptosis.

9. 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.

10. LGMD1D mutations in DNAJB6 disrupt its sarcoplasmic function suggesting a role for DNAJB6b in Z-disc organization and stress granule kinetics.

11. 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

12. Functional study using zebrafish embryos demonstrated that p.Phe91Leu elicits more severe muscle defects than the reported p.Phe93Leu and p.Pro96Arg mutations

13. 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

14. This study showed that Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

15. DNAJB6a reduces AKT signaling, and DNAJB6 expression in cancer cells reduces their proliferation and growth of xenograft esophageal squamous cell tumors in mice.

16. There was a positive correlation between DNAJB6 and IQGAP1 expression.

17. Geneticanalysis indicated a heterozygous missense mutation of c.279C>G

18. 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.

19. DNAJB6 G/F domain mutants disrupt the processing of nuclear TDP-43 stress granules in mammalian cells.

20. DNAJB6 interacts with growing amyloid-beta 42 (Abeta42) aggregates, which leads to sub-stoichiometric inhibition of amyloid formation

Mouse (Murine) DnaJ (Hsp40) Homolog, Subfamily B, Member 6 (DNAJB6) interaction partners

1. Mrj(-/-) chorions at embryonic day 8.5 have expanded Rhox4b expression domains and do not form normal layers of gene expression suggesting that chorion patterning requires Mrj.

2. Data show that Mrj(-/-) embryos exhibit neural tube defects independent of the placenta phenotype, including exencephaly and thin-walled neural tubes, and suggest that Mrj plays an important role in neural stem cell self-renewal.

3. NFATc3 is negatively regulated by class II histone deacetylases through the DnaJ (heat shock protein-40) superfamily member Mrj

4. Study demonstrates here that, in the developing placenta of the mouse, the absence of the Mrj co-chaperone prevents proteasome degradation of keratin 18 intermediate filaments, resulting in the formation of keratin inclusion bodies.

5. DnaJB6 is necessary for translocation of Slfn1 into the nucleus, where Slfn1 down-regulates cyclin D1, induces cell-cycle arrest and programmes a quiescent state of T-cells