familial

Sultosilic acid piperazine salt (A-585) is a novel lipid-lowering compound that can be used to study type IIb familial combined hyperlipidemia.

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.

Volanesorsen, an antisense oligonucleotide, targets Apolipoprotein C-III (APOC3) mRNA and is utilized in researching familial chylomicronemia syndrome.

Mipomersen (ISIS 301012 free base), an antisense oligonucleotide inhibitor of apolipoprotein B (apoB), exhibits an anti-HCV effect and reduces the infectivity of HCV. It is used in research targeting homozygous familial hypercholesterolemia (HoFH) [1] [2].

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

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, an orally administered inhibitor of Aβ(1-42) aggregation, has exhibited in vivo efficacy in a 5XFAD transgenic mouse model that harbors five familial AD mutations [1].

Tafamidis (Fx-1006A) is a kinetic stabilizer of transthyretin (TTR) that prevents amyloidogenesis by wild-type and mutant TTRs. It binds to TTR with negative cooperativity (Kd1: 3 nM; Kd2: 278 nM) to stabilize the TTR dimer-dimer interface and inhibit tetrameric dissociation. Tafamidis stabilizes wild-type and clinically significant V30M and V122I mutant TTR amyloidogenic homotetramers (EC50s: 2.7-3.2 μM) under fibril-promoting, denaturing, and physiological conditions in vitro. It stabilizes TTR heterotetramers containing wild-type and mutant subunits ex vivo in human plasma derived from patients carrying V30M or V1221 mutations when used at a concentration of 7.2 μM. Formulations containing tafamidis have been used for the treatment of familial amyloid polyneuropathy.

Tafamidis-d3 is a deuterated compound of Tafamidis. Tafamidis has a CAS number of 594839-88-0. Tafamidis is a kinetic stabilizer of transthyretin (TTR) that prevents amyloidogenesis by wild-type and mutant TTRs. It binds to TTR with negative cooperativity (Kd1: 3 nM; Kd2: 278 nM) to stabilize the TTR dimer-dimer interface and inhibit tetrameric dissociation. Tafamidis stabilizes wild-type and clinically significant V30M and V122I mutant TTR amyloidogenic homotetramers (EC50s: 2.7-3.2 μM) under fibril-promoting, denaturing, and physiological conditions in vitro. It stabilizes TTR heterotetramers containing wild-type and mutant subunits ex vivo in human plasma derived from patients carrying V30M or V1221 mutations when used at a concentration of 7.2 μM. Formulations containing tafamidis have been used for the treatment of familial amyloid polyneuropathy.

Demethyl celecoxib is a selective inhibitor of COX-2 with anti-inflammatory activity (IC50 of 32 nM). with anti-inflammatory activities. Desmethyl Celecoxib is an analog of Celecoxib and with the optimal yield of 75%.

rac Bendroflumethiazide-d5 is a deuterated compound of rac Bendroflumethiazide. rac Bendroflumethiazide has a CAS number of 73-48-3. A thiazide diuretic with actions and uses similar to those of HYDROCHLOROTHIAZIDE. It has been used in the treatment of familial hyperkalemia, hypertension, edema, and urinary tract disorders. (From Martindale, The Extra Pharmacopoeia, 30th ed, p810)

FRM-024 is a powerful gamma secretase modulator with the ability to penetrate the central nervous system (CNS), designed specifically for the treatment of familial Alzheimer's disease.