familial

Desmethyl Celecoxib 是一种选择性的环氧化酶 2 (COX-2) 抑制剂，IC50为 32 nM，具有抗炎活性。

Sultosilic acid piperazine salt (A-585) 是一种新型降脂化合物，可用于研究IIb型家族性联合高脂血症。

Seladelpar lysine, a selective PPAR-δ agonist, is used for the therapy of Homozygous Familial Hypercholesterolemia (HoFH).

Dichlorphenamide-13C6is intended for use as an internal standard for the quantification of dichlorphenamide by GC- or LC-MS. Dichlorphenamide is a sulfonamide and an orally bioavailable carbonic anhydrase (CA) inhibitor (Kis = 1.20, 38, 50, and 50 nM for the human CA isoforms CAI, CAII, CAIX, and CAXII, respectively).1It lowers intraocular pressure in rabbits when 50 μl of a 10% solution is applied topically to the eye.2Dichlorphenamide rescues the potassium deficiency and prevents insulin-induced paralysis in a rat model of familial hypokalemic periodic paralysis when administered at a dose of 5.6 mg/kg per day for ten days.3Formulations containing dichlorphenamide have been used in the treatment of glaucoma and primary periodic paralysis.

The metallo-protein Cu/Zn-superoxide dismutase (SOD1) is a ubiquitous enzyme responsible for scavenging superoxide radicals. Mutations in SOD1, which alter its metal binding capacity and can result in protein misfolding and aggregation, have been linked to familial amyotrophic lateral sclerosis (ALS). Cu-ATSM is an orally bioavailable, blood-brain barrier permeable complex that has traditionally been used in cellular imaging experiments to selectively label hypoxic tissue via its susceptibility to reduction by oxygen-depleted mitochondria. More recently, Cu-ATSM has been reported to improve locomotor function and survival in a transgenic ALS mouse model by delivering copper specifically to cells in the spinal cords of mice producing misfolded SOD1 proteins. Copper chaperone for SOD (CCS) is presumed to utilize the copper from Cu-ATSM to prevent misfolding of the SOD1 protein.

FRM-024 is a potent CNS-penetrant gamma secretase modulator for familial Alzheimer’s disease.

Tafamidis (Fx-1006A) 是选择性的transthyretin (TTR)稳定剂，对野生型 WT-TTR 、突变型同源四聚体 V30M-TTR、V122I-TTR 的活性相当，它们的EC50值为2.7-3.2 μM。它对淀粉样蛋白的生成具有抑制作用。

S-2E is a compound that functions as an orally active, noncompetitive inhibitor of both HMG-CoA reductase and acetyl-CoA carboxylase. It exhibits an anti-hyperlipidemic action, making it suitable for studying conditions such as familial hypercholesterolemia and mixed hyperlipidemia [1] [2].

YIAD-0205为口服有效的Aβ(1-42)聚集抑制剂，在5XFAD AD转基因小鼠模型中展现体内效力。

Ebronucimab（伊努西单抗）是一种靶向PCSK9的 IgG1抗体，能够降低LDL-C、TC、Non-HDL-C和 ApoB，提高，HDL-C和Apo A-I，用于治疗原发性高胆固醇血症和混合性高脂血症和杂合性家族性高胆固醇血症（HeFH）。

rac Bendroflumethiazide-d5 是 rac Bendroflumethiazide 的氘代化合物。rac Bendroflumethiazide 的 CAS 号为 73-48-3。Bendroflumethiazide 是一种口服具有活性的利尿剂。它是一种抗高血压药。它对动脉高血压疾病具有潜在的研究价值。

Tafamidis-d3 是 Tafamidis 的氘代化合物。Tafamidis 的 CAS 号为 594839-88-0。Tafamidis 是选择性的transthyretin (TTR)稳定剂，对野生型 WT-TTR 、突变型同源四聚体 V30M-TTR、V122I-TTR 的活性相当，它们的EC50值为2.7-3.2 μM。它对淀粉样蛋白的生成具有抑制作用。

SOD1 (147-153) human是一段在Cu Zn超氧化物歧化酶 (SOD1) 中倾向于形成淀粉样蛋白纤维的肽段.此肽段促进聚集体的形成,是导致家族性肌萎缩侧索硬化症 (fALS) 和散发性肌萎缩侧索硬化症 (sALS) 的关键分子.