defects

Folic acid 是一种口服活性必需营养素，参与DNA/RNA合成及新细胞的产生与维持，具有抗抑郁样作用，能降低新生儿神经管缺陷风险，缺乏时可引起巨幼红细胞性贫血、大红细胞性贫血、神经管闭合缺陷、肿瘤及衰老等疾病，且常用于因叶酸缺乏相关疾病研究及诱导急性肾损伤模型。

2BAct 是一种具有口服活性的高选择性真核起始因子eIF2B 活化剂，EC50为 33 nM。它可防止由慢性综合应激反应引起的神经系统缺陷。

B I09是一种 IRE-1 RNase 抑制剂，IC50为1230 nM，对人 WaC3细胞中 XBP1 mRNA 的剪接和 LPS 刺激的 B 细胞中 xbp -1的表达有抑制作用。B I09可用于 CLL 细胞模拟XBP-1缺陷的研究。

Mopidamol (RA 233) 是一种磷酸二酯酶抑制剂，是 dipyridamole 衍生物，具有抗癌活性，可预防实验性糖尿病的视网膜血管缺陷。

VRT-532 (CFpot-532)是CFTR 的有效调节剂，常用于CFTR 缺陷引起的囊性纤维化(CF)研究。降解囊性纤维化中积累的硫酸化糖胺聚糖(gag)所必需的Arylsulfatase B (ARSB)，小分子调节剂VRT-532对CFTR 的修饰能增加ARSB 并减少4-硫酸软骨素的积累。

VRT-325 可以通过促进两个 NBD 的二聚化或促进 TMD 的折叠来修复折叠缺陷。VRT-325 可加速CF细胞单层的愈合速度。

Cholestenone 是胆固醇的中间氧化产物，主要在肝脏中代谢。它能够会导致细胞长期功能缺陷。它在膜中具有很高的流动性，会影响胆固醇的翻转和外排。

Pramiracetam (CI-879) 来源于piracetam，能改善脑外伤引起的认知障碍。它是更有效的促智药物。

FKB04，作为一种端粒重复结合因子2（TRF2）抑制剂，在肝癌研究领域显示出潜力。通过破坏肝癌细胞的端粒维持机制，FKB04 诱导端粒缩短和细胞衰老，因而引发 T 环缺陷，发挥抗肿瘤活性。此外，该化合物还能抑制人肝癌异种移植小鼠模型（Huh-7 细胞植入 BALB c 小鼠）中的肿瘤生长。

YJ1206是一种高效和选择性CDK12 13 PROTAC降解剂(IC50 =12.55 nM)，具有可口服和低毒性的优点， 触发基因长度依赖的转录延伸缺陷，导致DNA损伤和细胞周期停滞，抑制前列腺癌细胞亚群的增殖。YJ1206可与AKT通路抑制剂协同，有效抑制前列腺癌。

YJ9069是一种针对CDK12 CDK13P的选择性ROTAC降解剂，其在VCaP细胞中的IC50达到22.22 nM。该化合物能迅速引起CDK12 13的降解，进而导致基因长度依赖性的转录延长缺陷，从而引发DNA损伤和细胞周期的停滞。在实验中，YJ9069能有效地抑制特定前列腺癌细胞亚群的增殖，并在动物模型中显著地抑制前列腺肿瘤的生长。

EpoY (SD-142) 作为主要脑微管蛋白酪氨酸羧肽酶 (TCP) 的不可逆抑制剂，展现了显著的生物活性。TCP 本身是由血管抑制素-1 (VASH1) 和小血管抑制素结合蛋白 (SVBP) 构成的复合物。EpoY 以约500 nM的IC50值抑制TCP，从而有效减少了α-微管蛋白的去酪氨酸化水平。这种去酪氨酸化对微管动力学及神经元分化至关重要。不过，此类抑制可能引发严重的分化缺陷，并与癌症以及心肌病等临床问题关系密切。

PZ-3022 是一种变构PanK激活剂，具有口服活性，能有效抵消 C3-CoA 的抑制作用。在丙酸血症小鼠模型中，PZ-3022 能够提高肝脏中的 CoASH 和 C2-CoA 水平，同时减少 C3-CoA。此化合物适用于研究丙酸血症中的线粒体功能障碍。

Etaden显示出对蛋白质合成具有积极影响，有助于溃疡缺陷的更快退化。

Valproic acid hydroxamate (VPA-HA) 在小鼠神经管缺陷模型中显示出抗惊厥活性，且无致畸活性。

Fluconazole 水合物是抗真菌化合物，用于治疗和预防浅表和全身性的真菌感染。

Hexaglutamate folate is a naturally occurring form of folic acid. The bioavailability of dietary folate may be limited by the need for the glutamate moieties to be deconjugated before absorption. Folate deficiency in humans results in anemia, neural tube

Hydroxyellipticine-1a, a selective r(CGG)exp probe, improves pre-mRNA splicing defects, inhibits formation of nuclear inclusions and RANT in a FXTAS cellular mode.l

SB236057 is a potent and selective inverse agonist for the 5-HT receptor, acting especially at 5-HT autoreceptors on nerve terminals. It produces a rapid increase in 5-HT levels in the brain. SB236057 also acts as a potent teratogen, producing severe musc

Hyperphyllin specifically mimics the branch defects of AMP1, including plastid reduction and expansion and proliferation of the branch meristem.

Levomefolate calcium pentahydrate is the calcium salt of 5-methyltetrahydrofolic acid, a biologically active form of folic acid that functions, in conjunction with Vitamin B12. Levomefolate is included in formulations of certain oral contraceptives to ens

The Survival of Motor Neurons (SMN) protein participates in RNA splicing. Decreases in SMN, typically a consequence of defects in the smn1 gene, result in the death of motor neurons and lead to the neurodegenerative disease, spinal muscular atrophy (SMA). Cuspin-1 is a small molecule upregulator of SMN that has been shown in vitro to increase levels of SMN in SMA patient fibroblasts by 50% at 18 μM. Its mechanism of action is thought to involve increased phosphorylation of ERK to initiate Ras-Raf-MEK signaling, which results in an increased rate of SMN translation.

Nemadipine A is an L-type calcium channel blocker that induces morphological and growth defects in wild-type C. elegans and those with hypoexpression of egl-19, which encodes the only L-type calcium channel α1-subunit in the C. elegans genome. It also inhibits L-type calcium channels in chick ciliary neurons. Nemadipine A increases TRAIL-induced cytotoxicity and synergistically enhances caspase-8 and caspase-3 activation in a concentration-dependent manner in H1299 lung adenocarcinoma cells. It also decreases Survivin expression when used alone or in combination with TRAIL in A549 cells.

Binucleine 2 is an isoform-specific and ATP-competitive inhibitor of Drosophila Aurora B kinase (Ki = 0.36 μM), a kinase involved in cell division. It is specific for Drosophila Aurora B kinase, inhibiting it in a dose-dependent manner, with minimal inhibition of human or X. laevis Aurora B kinases at concentrations up to 100 μM. Binucleine 2 induces mitotic and cytokinesis defects in Drosophila Kc167 cells. It prevents Drosophila S2 cells from assembling a contractile ring during cell division when used at a concentration of 40 μM but does not affect ring ingression, suggesting that Aurora B kinase activity is not required for that step.