| WB | 咨询技术 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | 咨询技术 | Human,Mouse,Rat |
| ICC | 1/50-1/200 | Human,Mouse,Rat |
| FCM | 咨询技术 | Human,Mouse,Rat |
| Elisa | 咨询技术 | Human,Mouse,Rat |
| Aliases | GBD1; ICP3; MDR2; MDR3; PGY3; ABC21; MDR2/3; PFIC-3 |
| Host/Isotype | Rabbit IgG |
| Antibody Type | Primary antibody |
| Storage | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| Species Reactivity | Human |
| Immunogen | Synthetic peptide of human ABCB4 |
| Formulation | Purified antibody in PBS with 0.05% sodium azide and 50% glycerol. |
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以下是关于SMN抗体的3篇参考文献，涵盖关键研究及综述：
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1. **文献名称**：*Identification and characterization of a spinal muscular atrophy-determining gene*
**作者**：Lefebvre, S., Bürglen, L., Reboullet, S., et al.
**摘要**：该研究首次发现脊髓性肌萎缩症(SMA)的致病基因**SMN1**，并开发了特异性SMN抗体用于检测患者中SMN蛋白的表达水平降低，揭示了SMN1基因缺失与SMA的直接关联。
2. **文献名称**：*A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy*
**作者**：Lorson, C.L., Hahnen, E., Androphy, E.J., et al.
**摘要**：研究通过SMN抗体分析发现，SMN2基因因单个核苷酸差异导致外显子跳跃，产生截短蛋白。抗体检测显示SMA患者中全长SMN蛋白显著减少，为靶向SMN2的疗法提供了依据。
3. **文献名称**：*Antisense correction of SMN2 splicing in the CNS rescues neurodegeneration in a mouse model of spinal muscular atrophy*
**作者**：Hua, Y., Sahashi, K., Rigo, F., et al.
**摘要**：利用SMN抗体追踪反义寡核苷酸(ASO)治疗后小鼠中枢神经系统中SMN蛋白的恢复情况，证明ASO可显著增加全长SMN蛋白，改善运动功能并延长生存期。
4. **文献名称**：*Spinal muscular atrophy: mechanisms and therapeutic strategies*
**作者**：Hamilton, G., & Gillingwater, T.H.
**摘要**：综述总结了SMN蛋白在运动神经元中的功能及检测手段(如抗体技术)，并评估了基因疗法和SMN2剪接调节剂的机制，强调SMN抗体在疗效评估中的关键作用。
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以上文献涵盖SMN抗体的基础研究、治疗应用及机制综述，均为SMA领域的里程碑成果。
**Background of SMN Antibodies**
SMN (Survival Motor Neuron) antibodies are critical tools in studying spinal muscular atrophy (SMA), a genetic disorder caused by mutations in the *SMN1* gene, leading to motor neuron degeneration. The SMN protein, encoded by *SMN1* and its nearly identical copy *SMN2*, plays a vital role in RNA processing, spliceosome assembly, and neuronal function. While *SMN2* produces low levels of functional SMN due to alternative splicing, its presence modifies SMA severity.
SMN antibodies are designed to detect and quantify SMN protein levels in cells and tissues, aiding in research and diagnostics. They help assess SMN expression in disease models, evaluate therapeutic efficacy, and understand SMN’s molecular interactions. For instance, antibodies targeting SMN’s functional domains are used in Western blotting, immunohistochemistry, or ELISA to monitor SMN upregulation in response to therapies like antisense oligonucleotides (e.g., nusinersen) or gene therapy (e.g., onasemnogene abeparvovec).
The development of SMN-specific antibodies has also advanced biomarker studies, enabling correlation between SMN levels and clinical outcomes. Challenges remain in distinguishing SMN isoforms and ensuring antibody specificity across species. Nonetheless, these reagents remain indispensable for unraveling SMA pathophysiology and accelerating therapeutic innovations aimed at restoring SMN expression to mitigate disease progression.
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