Recombinant Human Dystrobrevin alpha (DTNA)

1. Report left ventricular non-compaction associated with Barth Syndrome due to triple mutations in TAZ, DTNA, and SDHA genes in multiple members of one family. PMID: 29508483
2. we show for the first time localization of alpha-DB2 in nucleoli and Cajal bodies and provide evidence that a-DB2 is involved in the structure of nucleoli and might modulate nucleolar functions PMID: 25959029
3. our findings suggest that novel mutations in FAM136A and DTNA genes are probably causal variants in FMD. PMID: 25305078
4. apoptosis-induction in HL-60 cells involves not only classical markers of apoptosis but also a network alpha-DB-associated proteins at the cell membrane, the cytoplasm and nucleus, affecting key cellular transport processes and cellular structure. PMID: 22507200
5. Results suggest that alpha-dystrobrevin isoforms play a central role in cytoskeleton reorganization via their multiple interactions with actin and actin-associating proteins. PMID: 20111909
6. Data show that alpha-dystrobrevin-1 recruits alpha-catulin, which supersensitizes alpha(1D)-AR functional responses by recruiting effector molecules to the signalosome. PMID: 21115837
7. Fundamental functional differences between the alpha-dystrobrevins of mice and humans raises questions about the use of the mouse as a model animal for Duchenne muscular dystrophy. PMID: 19961569
8. During a cycle of regeneration in tibialis anterior muscle following myonecrosis, alpha-dystrobrevin reaches 50% of the protein level on day 28 by 6.6 days, regenerating more slowly than dystrophin. PMID: 12416719
9. alpha-dystrobrevin and its splice isoforms have a role in signal transduction in myeloid cells during induction of granulocytic differentiation and/or at the commitment stage of differentiation or phagocytic cells PMID: 12475945
10. Transgenic expression of either isoform of alpha-dystrobrevin prevented muscle fiber degeneration in knockout mice; however, only alphaDB1 corrected defects at neuromuscular and musculotendinous junctions. PMID: 12604589
11. patients with deficiency of beta2-syntrophin and alpha-dystrobrevin presented with severe congenital weakness and died in the first year, and patients with deficiency of alpha-DNT had congenital muscular dystrophy with complete external ophthalmoplegia. PMID: 12899872
12. findings suggest that a-dystrobrevin specifically is associated with the tight junctions during their reorganization PMID: 15834686
13. Results confirm that dystrophin is required for anchorage of the syntrophin-dystrobrevin subcomplex and suggest that expression of the syntrophin-dystrobrevin complex may be independently regulated through neuromuscular transmission. PMID: 15835271
14. Dystrobrevin mRNA including exons 11A and 12 was increased in both skeletal and cardiac muscle of DM1 patients. The aberrantly spliced alpha-dystrobrevin isoform was localized to the sarcolemma. PMID: 18299519

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HGNC: 3057

OMIM: 601239

KEGG: hsa:1837

STRING: 9606.ENSP00000382064

UniGene: Hs.643454