Recombinant Human Desmoplakin (DSP), partial

1. This study provided evidence that rs2076304 in exon 15 of the DSP gene is associated with a significantly increased risk of silicosis in a Han Chinese population. PMID: 30207747
2. For arrhythmogenic right ventricular cardiomyopathy patients, both missense and non-missense desmoplakin mutations carry a high arrhythmic risk. PMID: 28527814
3. Using molecular dynamics simulations, study elucidated the structural basis of post-translational modifications-induced effects. Simulations, nearing 2 mus in aggregate, indicate that phosphorylation of S2849 induces an "arginine claw" in desmoplakin's C-terminal tail. PMID: 27188911
4. Study identified DSP to be involved in the progressive intestinal injury associated with the development of Crohn's Disease complications via its effect on intestinal intercellular intermediate filament structure binding. PMID: 28490445
5. report for the first time in Korea on monozygotic twins with lethal acantholytic epidermolysis bullosa caused by two novel nonsense mutations in the DSP gene PMID: 28442525
6. Double heterozygotes for mutations in DSP and MYBPC3 showed a variable clinical presentation of arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy. PMID: 28699631
7. Study reports a DSP mutation in an association with progressive cardiac conduction disease and a high risk of sudden death. The pathogenicity of the newly identified genetic variant was confirmed by in vitro prediction analysis and familial segregation. These results suggest that the effect of the mutation might be partially due to abnormal function of ion channels as a consequence of desmosomal remodeling. PMID: 27166992
8. DSP is a desmosomal protein critical to cell-cell adhesion in a variety of cell types and important in wound healing and epithelial barrier function. PMID: 26669357
9. Novel desmoplakin frameshift deletion p.Thr2625fs (c.7871_7872delAC) was identified as a potential cause of heart disease and sudden cardiac death in a Polish family. PMID: 27698334
10. This is the first report of DSP genetic screening in Chinese sudden unexplained nocturnal death syndrome (SUNDS) and Brugada syndrome. Our results imply that DSP mutations contribute to the genetic cause of some SUNDS victims and maybe a new susceptible gene for Brugada syndrome. PMID: 26585738
11. Syndrome featuring erythrokeratodermia and cardiomyopathy (EKC) caused by mutation in DSP was described. Specific region of DSP protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin was identified. PMID: 26604139
12. novel de novo heterozygous missense mutation caused severe dermatitis, multiple allergies, and metabolic wasting syndrome PMID: 26073755
13. There is higher incidence of Myocarditis in DSP mutation carriers affected by Arrhythmogenic right ventricular dysplasia. PMID: 25616123
14. Case Reports: desmoplakin mutations associated with variable woolly hair or hypotrichosis, palmoplantar keratoderma, and cardiac manifestations. PMID: 25227139
15. Genetic testing revealed a novel combination of two heterozygous mutations in the DSP gene encoding desmoplakin PMID: 25516398
16. Case Report: PKP2/DSP mutations in patient with Brugada syndrome and ventricular tachycardia. PMID: 25900994
17. Patients whose MPM tissues expressed elevated mRNA levels of BIRC5, DSP, NME2, and THBS2 showed a statistically significant shorter overall survival. PMID: 25771974
18. GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics. PMID: 25733715
19. our data indicate that DP phosphorylation at S2849 represents an important mechanism in pemphigus pathogenesis PMID: 25010392
20. a subset of arrhythmogenic cardiomyopathy mutations, in addition to a mutation associated with skin fragility/woolly hair syndrome, impair gap junction localization and function by misregulating DP-EB1 interactions and altering microtubule dynamics. PMID: 25225338
21. Arrhythmogenic right ventricular cardiomyopathy patients of a three-generation Spanish family with a novel nonsense genetic variation in the DSP gene. PMID: 23954618
22. The cardiomyopathy mechanisms varied accordingly to the specific types of DSP mutation identified and included haploinsufficiency, dominant-negative effects, or a combination hereof. PMID: 23137101
23. DSP is inactivated in lung cancer by an epigenetic mechanism, increases the sensitivity to anticancer drug-induced apoptosis and has tumor-suppressive function, possibly through inhibition of the Wnt/beta-catenin signaling pathway in NSCLC cells. PMID: 22791817
24. DSP splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes. PMID: 22454510
25. In two unrelated patients with Naxos-Carvajal syndrome, a single heterozygous de novo mutation in the desmoplakin gene DSP, p.Leu583Pro and p.Thr564Ile, leading to severe phenotypes was found. PMID: 22949226
26. Desmoplakin disease causes connexin mislocalization in the mouse & man preceding overt histological abnormalities resulting in significant alterations in conduction repolarization kinetics prior to morphological changes detectable on cardiac imaging PMID: 22240500
27. Desmoplakin and pGSK3beta constitute independent good prognostic factors for progression free survival in Ewing Sarcoma patients. PMID: 22898789
28. desmoplakin is a promising candidate for supportive CSF marker to rule out 14-3-3 false positive cases in sporadic Creutzfeldt-Jakob disease differential diagnosis. PMID: 22213780
29. desmoplakin I levels, determined within 1-3 months of the first ischemic stroke, could be a biomarker for statin responsiveness against a new vascular event in post-ischemic stroke patients taking statins PMID: 22304020
30. Palmitate significantly reduces DSP expression, and treatment with insulin restores the lost expression of DSP. PMID: 22132232
31. Case Report: desmoplakin mutation responsible for juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. PMID: 21789513
32. DP Ser2849Gly promotes hyperadhesion PMID: 21993560
33. We detected a novel mutations: DSP T1373A and it may be associated with a risk for tachycardia PMID: 21397041
34. A novel nonsense mutation in the desmoplakin gene and the truncated protein which it produces caused left dominant arrhythmogenic cardiomyopathy PMID: 21458130
35. Mutations in desmoplakin protein is associated with cardiomyopathy. PMID: 21756917
36. Full sequencing of the DSP showed a novel homozygous c.7097 G>A (p.R2366H) mutation in all skin fragility-woolly hair syndrome affected family members. PMID: 20738328
37. intimate intramolecular association of the SH3 domain with the preceding SR is also observed in plectin, another plakin protein suggesting that the SH3 domain of plakins contributes to the stability and rigidity of this subfamily of SR-containing proteins PMID: 21536047
38. SERCA2-deficient cells exhibited up to a 60% reduction in border translocation of desmoplakin (DP), the desmosomal cytolinker protein necessary for intermediate filament (IF) anchorage to sites of robust cell-cell adhesion PMID: 21156808
39. autosomal-dominant mutations in the DSP gene are associated with hypo/oligodontia in the setting of Carvajal/Naxos syndrome PMID: 20940358
40. A novel minor isoform of desmoplakin that is also produced by alternative splicing of the desmoplakin gene, is described. PMID: 20524011
41. we describe a combination of DP mutation phenotypes affecting the skin, heart, hair, and teeth PMID: 19924139
42. Lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessive disorder caused by mutations in the gene encoding the desmosomal protein, desmoplakin (DSP) PMID: 19945626
43. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. haploinsufficiency PMID: 11841538
44. non-small cell lung carcinoma subtypes have specific patterns of desmoplakin 1 and 2 and cytokeratin 18 gene expression, protein content and biodistribution PMID: 11955647
45. Mutation (S299R) in exon 7 of desmoplakin causes arrhythmogenic right ventricular cardiomyopathy, unlinked to other causes. PMID: 12373648
46. desmoplakin has a role in capillary formation PMID: 15190119
47. Naxos disease is not caused by the desmoplakin gene mutation in an arab family. PMID: 15494820
48. the involvement of desmoplakin (DP), plectin, and periplakin in the destruction of epithelial cell integrity ensures the efficient elimination of cytoskeleton, but also provides specificity for selectively targeting individual adhesion molecules PMID: 15500642
49. dominant mutation in desmoplakin that causes left-sided arrhythmogenic left ventricular cardiomyopathywith arrhythmias of left ventricular origin. PMID: 16061754
50. dramatic phenotype, which we named "lethal acantholytic epidermolysis bullosa," underscores the paramount role of desmoplakin in epidermal integrity PMID: 16175511

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HGNC: 3052

OMIM: 125647

KEGG: hsa:1832

STRING: 9606.ENSP00000369129

UniGene: Hs.519873