DST Antibody

1. A report on 2 novel heterozygous mutations in the dystonin (DST) gene from a family with hereditary sensory and autonomic neuropathy type VI. Induced-pluripotent stem cells findings suggest that the dystonin defect might alter proper development of the peripheral nerves PMID: 28468842
2. dystonin and bullous pemphigoid antigen 1 are encoded by the same gene but are different proteins with different diseases [review] PMID: 26479498
3. Two of the six genes (LAMA3 and DST) validated by quantitative RT-PCR for tumor-specific alternative splicing events PMID: 24675808
4. Results identify four families with autosomal recessive EBS from Kuwait in whom the skin fragility is caused by recurrent nonsense mutation in DST-4. PMID: 25059916
5. Circulating anti-BP230 autoantibodies are not correlated with severity of genital lichen sclerosis or itching. PMID: 24676719
6. A key role for BPAG1-e in regulating keratinocyte adhesion and migration and suggest a requirement for this protein in controlling functional switching between integrin types in epithelial cells. PMID: 24025550
7. Authors conclude that, during entry of herpes simplex virus 1, dystonin has a specific role in plus-ended transport of capsids from the centrosome to the nucleus. PMID: 23903849
8. Mutations of the EF-hands of BPAG1n4 abolish calcium-dependent microtubule plus end dynamics. PMID: 22995871
9. study identifies dystonin, a cytoskeleton cross-linker involved in microtubule-based transport, as a binding partner of the HSV-1 protein pUL37, implicated in capsid transport; study provides insight into cellular requirements for HSV-1 capsid transport and identifies dystonin as a nonmotor protein part of transport machinery PMID: 23269794
10. There is a significantly enhanced ratio between the dynorphin A immunoreactive area and the whole area of the entopeduncular nucleus in genetically dystonic hamsters compared to controls. PMID: 21638337
11. This is the first report of a defect in the neuronal isoform of dystonin in humans. PMID: 22522446
12. in motile cells Col XVII recruits BPAG1e to alpha6beta4 integrin and is necessary for activation of signaling pathways, motile behavior, and lamellipodial stability. PMID: 21642434
13. Bullous pemphigoid antigen 1 (BPAG1) was identified as a melanoma antigen recognized by its auto-antibody. PMID: 20479946
14. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. PMID: 20164846
15. BPAG1-b was detectable in vitro and in vivo as a high molecular mass protein in striated and heart muscle cells, co-localizing with alpha-actinin-2 and partially with the cytolinker plectin as well as with the intermediate filament protein desmin. PMID: 19932097
16. keratinocyte responsive element 3 functions as a position-, copy number-, and orientation-dependent cis-element contributing to tissue-specific regulation of the 230-kDa bullous pemphigoid antigen gene. PMID: 12542537
17. Bpag1 is not strictly a cytoplasmic/membrane protein but that it can also localize to the nucleus PMID: 14576348
18. Additional autoantibodies against a 230-kDa protein and against a 190-kDa protein comigrating with bullous pemphigoid antigen 1 (BP230) and periplakin, respectively, were present in all the patients' sera. PMID: 14705806
19. IFN-gamma-IRF system is involved in BPAG1 gene regulation in type-1 helper T-cell inflammatory skin conditions, such as psoriasis vulgaris PMID: 15560761
20. antibodies against BP230 can elicit the clinical and immunopathological features of Bullous pemphigoid in neonatal mice PMID: 15725571
21. findings demonstrated that disruption of the IFN-stimulated responsive element sequences, but not the IFNgamma activation site, markedly suppressed the BPAG1 basal promoter activity and resulted in attenuated IFNgamma response in keratinocytes PMID: 16512878
22. We report the crystal structure of a stable fragment from BPAG1, residues 226-448, defined by limited proteolysis of the whole plakin domain. The plakin domains has two pairs of spectrin repeats interrupted by a putative Src-Homology 3 (SH3) domain. PMID: 17161423
23. IgE autoantibodies to BP180 and BP230 are detected at high frequencies in bullous pemphigoid. PMID: 17920818
24. Vitamin D(3) inhibits expression of bullous pemphigoid antigen 1 through post-transcriptional mechanism without new protein synthesis. PMID: 18207369
25. BPAG1e is required for efficient regulation of keratinocyte polarity and migration by determining the activation of Rac1. PMID: 19403692

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HGNC: 1090

OMIM: 113810

KEGG: hsa:667

STRING: 9606.ENSP00000244364

UniGene: Hs.604915