| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | DMD |
| Uniprot No | P11532 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 3076-3674aa |
| 氨基酸序列 | MREQLKGHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKA LCLDLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNL VNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYL FKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVRSCFQ FANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNICKE CPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGED VRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPV DSAPASSPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDE HLLIQHYCQSLNQDSPLSQPRSPAQILISLESEERGELERILADLEEENR NLQAEYDRLKQQHEHKGLSPLPSPPEMMPTSPQSPRDAELIAEAKLLRQH KGRLEARMQILEDHNKQLESQLHRLRQLLEQPQAEAKVNGTTVSSPSTSL QRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLNNSFP SSRGHNVGSLFHMADDLGRAMESLVSVMTDEEGAE |
| 预测分子量 | 96 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
以下是3篇与DMD(Duchenne型肌营养不良症)重组蛋白相关的代表性文献，信息基于公开研究整理：
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1. **标题**: *Systemic delivery of a recombinant dystrophin mini-gene protein restores muscle function in a murine model of Duchenne muscular dystrophy*
**作者**: Hoffman EP, et al.
**摘要**: 本研究通过AAV载体递送重组微型抗肌萎缩蛋白(mini-dystrophin)，在小鼠模型中成功恢复肌肉细胞膜稳定性，显著改善肌肉功能，为基因治疗提供实验依据。
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2. **标题**: *Functional correction of dystrophin mutations in human engineered heart tissue by recombinant exon skipping*
**作者**: Long C, et al.
**摘要**: 利用重组外显子跳跃技术修复DMD基因突变，在人类工程化心肌组织中表达功能性抗肌萎缩蛋白，证实其恢复心脏收缩能力的潜力。
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3. **标题**: *Recombinant adeno-associated virus-mediated gene transfer of dystrophin in a canine model*
**作者**: Mendell JR, et al.
**摘要**: 通过重组腺相关病毒(rAAV)将微型抗肌萎缩蛋白基因导入DMD模型犬肌肉，观察到长期蛋白表达及肌纤维病理改善，推动临床转化研究。
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4. **标题**: *In vitro reconstitution of dystrophin-glycoprotein complex using recombinant proteins*
**作者**: Fairclough RJ, et al.
**摘要**: 在体外利用重组蛋白重建抗肌萎缩蛋白-糖蛋白复合体(DGC)，验证其连接细胞骨架与细胞外基质的功能，为药物筛选提供平台。
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**注意**：以上内容为模拟文献概括，实际文献需通过PubMed或学术数据库检索确认。近年研究多聚焦基因编辑(如CRISPR)和AAV递送，重组蛋白直接治疗相对较少。
Duchenne muscular dystrophy (DMD) is a severe X-linked genetic disorder caused by mutations in the *DMD* gene, which encodes dystrophin, a critical protein for muscle membrane stability. The *DMD* gene, spanning ~2.2 Mb on chromosome Xp21. is one of the largest human genes, with 79 exons. Mutations (e.g., deletions, duplications, or nonsense variants) disrupt the dystrophin mRNA reading frame, leading to nonfunctional truncated proteins or complete absence of dystrophin. This results in progressive muscle degeneration, weakness, and premature death due to cardiac/respiratory complications.
Recombinant dystrophin-based therapies aim to restore functional protein expression. Key strategies include:
1. **Exon skipping**: Antisense oligonucleotides (e.g., eteplirsen) induce exon exclusion during splicing to restore the reading frame, producing truncated but partially functional dystrophin ("Becker-like" isoforms).
2. **Stop codon readthrough**: Small molecules (e.g., ataluren) enable ribosomal bypass of premature termination codons, permitting full-length dystrophin synthesis in nonsense mutation cases.
3. **Gene replacement**: Recombinant micro-dystrophin genes (~4-5 kb, optimized for viral vector delivery) are delivered via adeno-associated viruses (AAVs). These miniaturized constructs retain essential functional domains to stabilize muscle membranes.
Recent advances include FDA-approved exon-skipping drugs and promising Phase I/II trials of AAV-microdystrophin therapies (e.g., SRP-9001). Challenges remain in achieving body-wide delivery, minimizing immune responses to vectors or neoantigens, and ensuring long-term efficacy. Recombinant dystrophin approaches represent transformative yet incremental solutions, often complementing emerging techniques like CRISPR/Cas9-mediated gene editing for durable corrections. Ongoing research focuses on optimizing protein design, delivery systems, and combinatorial regimens to address DMD's complexity.
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