LDB3 Antibody

1. Interaction is demonstrated between ZASP and two new binding partners both of which have roles in signalling, regulation of gene expression and muscle differentiation; the mechanosensing protein Ankrd2 and the tumour suppressor protein p53. PMID: 24647531
2. p.(D117N) variant in Cypher/ZASP is not a causative mutation for dilated cardiomyopathy and ventricular arrhythmias. PMID: 26419279
3. A novel heterozygous missense mutation (p.N155H) in a highly conserved PDZ-like motif of ZASP was identified. The results indicate that typical ZASP-MFM presenting with late-onset distal myopathy is commonly associated with mutations in PDZ-like motif of ZASP. PMID: 27546599
4. The molecular basis for high-affinity binding of ZASP to G-Actin has been described. PMID: 28349680
5. this is the first family with Arrhythmogenic right ventricular cardiomyopathy where a mutation in LDB3 is associated with Arrhythmogenic right ventricular cardiomyopathy PMID: 25041374
6. Study identified abnormal inclusion of LDB3 exon 11 specific to myotonic dystrophy type at the RNA and protein level; inclusion changed the affinity of LDB3 for PKC, indicating that exon 11 may contribute to the activation of PKC in DM1 PMID: 24878509
7. results show that MFM-associated ZASP mutations in the actin-binding domain have deleterious effects on the core structure of the Z-discs in skeletal muscle. PMID: 24668811
8. Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked beta-N-acetylglucosamine-substituted protein in human heart myofibrils PMID: 23271734
9. This results of this indicted that One patient harbored the missense mutation c.1719G>A (p.V566M) in the ZASP gene. PMID: 22349865
10. ZASP1 can form protein complex with telethonin/T-Cap and Na(v)1.5. The left ventricular noncompaction-specific ZASP1 mutation can cause loss of function of Na(v)1.5, without significant alteration of the cytoskeletal protein complex. PMID: 22929165
11. TNNT3 and LDB3 showed abnormal splicing and appeared more pronounced in myotonic dystrophies type 2 relative to myotonic dystrophies type 1. PMID: 20066428
12. the D626N mutation of Cypher/ZASP increases the affinity of the LIM domain for protein kinase C, which may be related to pathogenesis of dilated cardiomyopathy PMID: 14660611
13. ZASP/Cypher internal fragments containing either ZM exon 4 or 6 co-localized with alpha-actinin in cultured myoblasts and nonmuscle cells. PMID: 16476425
14. Tafazzins are essential during fetal and early post-natal life. PMID: 17394203
15. ZASP/Cypher anchors PGM1 to Z-disc under conditions of stress. The impaired binding of PGM1 to ZASP/Cypher might be involved in the pathogenesis of dilated cardiomyopathy. PMID: 19377068

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HGNC: 15710

OMIM: 601493

KEGG: hsa:11155

UniGene: Hs.657271