hereditary

Elesclomol (STA-4783) is an oxidative stress inducer and a highly lipophilic copper ion carrier. Elesclomol induces apoptosis in tumor cells and is used in copper death related studies. Elesclomol also inhibits FDX1-mediated Fe-S cluster biosynthesis.

Crilvastatin (PMD 387) is a novel, non-competitive hydroxymethylglutaryl coenzyme A reductase inhibitor with cholesterol-lowering activity, inhibiting cholesterol uptake in rats with hereditary hypercholesterolemia.

Tocofersolan (TPGS) is a polyethylene glycol derivative of α-tocopherol and synthetic water-soluble version of Tocopherol. Tocofersolan is an oral treatment of vitamin E deficiency due to digestive malabsorption in pediatric patients with congenital chronic cholestasis or hereditary chronic cholestasis.

Avoralstat (BCX4161) is an oral plasma kallikrein (PKK) inhibitor. Which is used for the treatment of hereditary angioedema.

Carglumic Acid (Ureidoglutaric acid) is an orphan drug used to treat hyperammonemia in patients with N-acetyl glutamate synthase absence. This rare hereditary disease results in elevated blood levels of ammonia, which can eventually cross the blood-brain barrier and lead to neurologic problems, coma, cerebral edema, and death. Carglumic acid was approved by the U.S. FDA on 18 March 2010.

N-Acetyl-D-mannosamine (ManNAc) is a potential drug for treating hereditary inclusion body myopathy.

(9R)-RO7185876 (Compound example 16) is a γ-secretase inhibitor. It reduces the secretion of Αβ42. This compound can be employed in the research of Alzheimer's disease, cerebral amyloid angiopathy, hereditary cerebral hemorrhage with amyloidosis, multi-infarct dementia, senile dementia, or Down syndrome.

Icatibant Acetate, an antagonist of the bradykinin B2 receptor, is used in the treatment of hereditary angioedema.

Nogotrienone is an anabolic steroid with fertility and contraceptive activity that has been studied as a therapeutic agent for hereditary angioneurotic edema.

Berotralstat (BCX7353) is a second-generation, synthetic, and orally active plasma kallikrein inhibitor with low toxicity. It is highly specific and effectively used in the research of hereditary angioedema (HAE) attacks. Berotralstat functions by inhibiting the enzymatic activity of plasma kallikrein, which is responsible for the release of bradykinin. This blocking mechanism targets the major biologic peptide involved in the promotion of swelling and pain associated with HAE attacks[1][2].

Nitisinone-13C6is intended for use as an internal standard for the quantification of nitisinone by GC- or LC-MS. Nitisinone is an inhibitor of 4-hydroxyphenylpyruvate dioxygenase (HPPD), which converts 4-hydroxyphenylpyruvate (HPPA) to homogentisate in the tyrosine catabolic pathway.1Nitisinone increases urinary levels of HPPA and 4-hydroxyphenyllactate (HPLA) in rats when administered at a dose of 10 mg/kg. Nitisinone (3 mg/kg) prevents the neonatal lethality of fumarylacetoacetate hydrolase (FAH) deficiency in mice when administered to pregnant dams.2It exhibits hepatoprotective effects inFAH-/-mice, such as prevention of increases in plasma levels of aspartate serine aminotransferase (AST) and conjugated bilirubin, when administration is continued following birth at a dose of 1 mg/kg. Nitisinone (100 μg) decreases urinary excretion of homogentisate and increases urinary excretion of HPPA, HPLA, and 4-hydroxyphenylacetate in a mouse model of alkaptonuria induced by ethylnitrosourea.3Formulations containing nitisinone have been used in the treatment of hereditary tyrosinemia type 1 (HT-1). 1.Ellis, M.K., Whitfield, A.C., Gowans, L.A., et al.Inhibition of 4-hydroxyphenylpyruvate dioxygenase by 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione and 2-(2-chloro-4-methanesulfonylbenzoyl)-cyclohexane-1,3-dioneToxicol. Appl. Pharmacol.133(1)12-19(1995) 2.Grompe, M., Lindstedt, S., al-Dhalimy, M., et al.Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type INat. Genet.10(4)453-460(1995) 3.Suzuki, Y., Oda, K., Yoshikawa, Y., et al.A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuriaJ. Hum. Genet.44(2)79-84(1999)

PRMT5-IN-14 is a PRMT5 inhibitor used to treat cancer, sickle cell, and hereditary persistence of foetal hemoglobin (HPFH) mutations.

Plasma kallikrein-IN-3, a potent inhibitor ( IC 50 : 0.15 μM) of plasma kallikrein, finds application in research related to hereditary angioedema, diabetic macular edema, and diabetic retinopathy [1].

Plasma kallikrein-IN-2, a potent inhibitor of plasma kallikrein (PKal) with an inhibitory concentration (IC) 50 value of 0.1 nM, is utilized in research targeting hereditary angioedema, diabetic macular edema, and diabetic retinopathy.

Metanephrine is an o-methylated metabolite of catecholamines and can be used as a marker for different hereditary pheochromocytomas.

Taurodeoxycholic acid (Taurodeoxychloic acid) is a bile acid taurine conjugate of deoxycholic acid, a human metabolite that stabilizes mitochondrial membranes and reduces the formation of free radicals.Taurodeoxycholic acid inhibits apoptosis by blocking calcium-mediated apoptotic pathways and by activation of caspase-12. Taurodeoxycholic acid has neuroprotective activity and has been used to study 3-nitropropionic acid-induced or stabilized hereditary Huntington's chorea (HD).

Lanadelumab (SHP643), a humanized IgG1 monoclonal antibody, targets plasma kallikrein (pKal) with a K i value of 0.12 nM, effectively inhibiting both its free form and its interaction with high molecular weight kininogen (HMWK)-bound pKal. This compound shows promise for hereditary angioedema research [1] [2].

Garadacimab (CSL312) is a potent whole-human IgG4 monoclonal antibody targeting activation factor XII (FXIIa). Garadacimab can be used to study hereditary angioedema.

Carnitine palmitoyltransferase 2 (CPT2), an enzyme involved in fatty acid oxidation, serves as a prognostic biomarker for colorectal cancer (CRC). Overexpression of CPT2 activates phosphorylated p53, enhancing its expression, which in turn suppresses tumor growth and induces apoptosis. Conversely, a deficiency in CPT2 leads to the prevalent hereditary disorder of long-chain fatty acid oxidation in skeletal muscle. Additionally, the downregulation of CPT2 correlates strongly with the advancement of multiple cancers, highlighting its importance in cancer research [1] [2].

Elamipretide Triacetate (Elamipretide TriTFA) is an aromatic-cationic tetrapeptide that readily penetrates cell membranes and transiently localizes to the inner mitochondrial membrane where it associates with cardiolipin.It has been used in trials studying the treatment of Leber's Hereditary Optic Neuropathy.

WIZ degrader 2 (Compound 142) is a degrader of the wide-interval zinc finger motif (WIZ) with an AC50 of 0.011 μM. It induces the expression of fetal hemoglobin (HbF) with an EC50 of 0.038 μM. This compound is useful for research into hereditary blood diseases.

Oligopeptide-68 Acetate is a peptide. It is a novel whitening ingredient that mimics the binding of TGF-β to cell surface receptors to reduce induced and hereditary pigmentation by inhibiting MITF intramolecular channels to achieve whitening and brightening effects.

Rusfertide, a peptide mimetic of natural hepcidin, targets and degrades ferroportin, thereby reducing serum iron and transferrin saturation, which helps regulate red blood cell production. It ameliorates conditions such as polycythemia vera, β-thalassemia, and hereditary hemochromatosis [1] [2].

Pentacarboxylporphyrin I dihydrochloride is an organic compound that belongs to the porphyrin derivatives family. It is commonly utilized in biochemical research as a reference standard for quantifying porphyrins and related compounds in biological samples. Pentacarboxylporphyrin I dihydrochloride has various applications in the diagnosis and monitoring of porphyrias, a group of hereditary diseases characterized by abnormalities in heme metabolism. Additionally, it serves as a photosensitizer in photodynamic therapy for the treatment of cancer and other diseases.