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Results for "

inherited diseases

" in MedChemExpress (MCE) Product Catalog:

13

Inhibitors & Agonists

1

Biochemical Assay Reagents

4

Natural
Products

Cat. No. Product Name Target Research Areas Chemical Structure
  • HY-161111
    KVS0001

    		Ser/Thr Kinase Cancer
    KVS0001 is a selective SMG1 inhibitor. KVS0001 elevates the expression of transcripts and proteins resulting from truncating mutations. KVS0001 increased the presentation of immune-targetable HLA class I-associated peptides from nonsense-mediated decay (NMD)-downregulated proteins on the surface of cancer cells. KVS0001 exerts anti-tumor properties and can be studied in research for NMD-related diseases, including cancer and inherited diseases .
    KVS0001
  • HY-148794
    Risvodetinib

    IkT-148009

    		 c-Met/HGFR Bcr-Abl Neurological Disease Cancer
    Risvodetinib (IkT-148009) is an orally active, selective and brain-penetrant protein tyrosine kinase inhibitor, displaying excellent target efficacy against c-Abl1, c-Abl2/Arg with IC50 values of 33 nM, 14 nM, respectively. Risvodetinib suppresses c-Abl activation and substantially protects dopaminergic neurons from degeneration in mouse models of both inherited and sporadic Parkinson’s disease (PD), which is promising for research in the field of PD .
    Risvodetinib
  • HY-106509
    Velaresol

    BW 12C; 12C79; BW 12C79

    		 Others Others
    Velaresol (BW 12C) is a potent left-shifting anti-sickling compound in vitro . Sickle cell disease is an inherited disorder of the hemoglobin molecule. When hemoglobin molecules are exposed to a variety of environments, the red blood cell hemoglobin polymerizes, twists, and morphs into a sickle shape.
    Velaresol
  • HY-113377A
    L-Glyceric acid sodium

    		Endogenous Metabolite Metabolic Disease
    L-Glyceric acid sodium is a mainly urinary metabolite accumulating in rare inherited metabolic disease L-glyceric aciduria. L-Glyceric acid sodium can be used to diagnose primary hyperoxaluria type 2 (PH2). L-Glyceric acid sodium excretion to distinguish PH1 from PH2 .
    L-Glyceric acid sodium
  • HY-W012734
    L-Pipecolic acid
    1 Publications Verification

    H-HoPro-OH

    		 Endogenous Metabolite Metabolic Disease
    L-Pipecolic acid (H-HoPro-OH) is an oral active metabolite of Lysine and can accumulate in the bodily fluids of infants with autosomal inherited diseases, such as Zellweger syndrome and neonatal adrenal insufficiency. L-Pipecolic acid can promote muscle cell health and growth by enhancing protein synthesis, and plays a role in promoting gut health. L-Pipecolic acid holds promise for research in the fields of metabolic disorders, muscle growth disorders, and intestinal diseases .
    L-Pipecolic acid
  • HY-150245
    mHTT-IN-1

    		Huntingtin Neurological Disease
    mHTT-IN-1 (Example 1) is a potent mutant huntingtin (mHTT) inhibitor. mHTT is toxic and a major cause of the inherited autosomal dominant neurodegenerative disorder, Huntington's disease (HD). mHTT-IN-1 conducts the reduction of mHTT with an EC50 value of 46 nM .
    mHTT-IN-1
  • HY-169761
    (rac)-dWIZ-1

    		Histone Methyltransferase Cardiovascular Disease
    WIZ-IN-1 (Example 2) is a Wiz inhibitor (DC50: 0.36 μM). WIZ-IN-1 can be used for research of inherited blood disorders (e.g., hemoglobinopathies, e.g., beta- hemoglobinopathies), such as sickle cell disease and beta-thalassemia .
    (rac)-dWIZ-1
  • HY-113377
    L-Glyceric acid

    		Endogenous Metabolite Metabolic Disease
    L-Glyceric acid is a mainly urinary metabolite accumulating in rare inherited metabolic disease L-glyceric aciduria. L-Glyceric acid can be used to diagnose primary hyperoxaluria type 2 (PH2). L-Glyceric acid excretion to distinguish PH1 from PH2 .
    L-Glyceric acid
  • HY-117051
    STA-2842

    		HSP Cancer
    STA-2842 is an inhibitor of heat shock protein HSP90 with potential to inhibit autosomal dominant polycystic kidney disease (ADPKD). ADPKD is caused by inherited mutations in the PKD1 or PKD2 genes that abnormally activate multiple signaling proteins and pathways that regulate cell proliferation. STA-2842 can significantly reduce initial renal cyst formation and kidney growth in mice, and slow disease progression in mice with existing cysts.
    STA-2842
  • HY-W127805
    Pentacarboxylporphyrin I dihydrochloride

    		Biochemical Assay Reagents Others
    Pentacarboxylporphyrin I dihydrochloride is an organic compound belonging to the family of porphyrin derivatives. It is commonly used in biochemical research as a reference standard for the quantification of porphyrins and related compounds in biological samples. Pentacarboxylporphyrin I dihydrochloride has several applications in the diagnosis and monitoring of porphyrias, a group of inherited disorders characterized by abnormalities in heme metabolism. In addition, it can be used as a photosensitizer in photodynamic therapy for the improvement of cancer and other diseases.
    Pentacarboxylporphyrin I dihydrochloride
  • HY-106509R
    Velaresol (Standard)

    BW 12C (Standard); 12C79 (Standard); BW 12C79 (Standard)

    		 Others Others
    Velaresol (Standard) is the analytical standard of Velaresol. This product is intended for research and analytical applications. Velaresol (BW 12C) is a potent left-shifting anti-sickling compound in vitro . Sickle cell disease is an inherited disorder of the hemoglobin molecule. When hemoglobin molecules are exposed to a variety of environments, the red blood cell hemoglobin polymerizes, twists, and morphs into a sickle shape.
    Velaresol (Standard)
  • HY-W012734R
    L-Pipecolic acid (Standard)

    		Endogenous Metabolite Metabolic Disease
    L-Pipecolic acid (Standard) is an analytical standard of L-Pipecolic acid. This product is used for research and analytical applications. L-Pipecolic acid (H-HoPro-OH) is an oral active metabolite of Lysine and can accumulate in the bodily fluids of infants with autosomal inherited diseases, such as Zellweger syndrome and neonatal adrenal insufficiency. L-Pipecolic acid can promote muscle cell health and growth by enhancing protein synthesis, and plays a role in promoting gut health. L-Pipecolic acid holds promise for research in the fields of metabolic disorders, muscle growth disorders, and intestinal diseases .
    L-Pipecolic acid (Standard)
  • HY-163818
    WIZ degrader 2

    		Histone Methyltransferase Others
    WIZ degrader 2 (Compound 142) is a degrader for widely interspaced zinc finger motifs with an AC50 of 0.011 μM. WIZ degrader 2 induces the expression of fetal hemoglobin (HbF) with an EC50 of 0.038 μM. WIZ degrader 2 can be used in research about inherited blood disorders .
    WIZ degrader 2

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