familial

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。

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。

Mipomersen (ISIS 301012 free base) 是载脂蛋白 B(apoB)的反义寡核苷酸抑制剂。Mipomersen 具有抗HCV 的作用，可降低HCV 的感染性。Mipomersen 可用于纯合子家族性高胆固醇血症 (HoFH) 的研究。

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

Volanesorsen，一种反义寡核苷酸，针对APOC3 mRNA [载脂蛋白 C-III] 进行靶向，用于家族性乳糜酶血症综合征相关研究。

Volanesorsen sodium是一种反义寡核苷酸，专门靶向载脂蛋白C-III (APOC3) mRNA，用于研究家族性乳糜酶血症综合征。

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.

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。

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。

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。

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.

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。

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