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Results for "

genetic disorders

" in MedChemExpress (MCE) Product Catalog:

By Targets:	Casein Kinase (1) DNA/RNA Synthesis (3) Dopamine Receptor (1) Dystrophin (1) Endogenous Metabolite (1) Histone Methyltransferase (1) HPPD (3) Isotope-Labeled Compounds (1) Liposome (1) Phosphatase (1) PROTACs (1)
By Research Areas:	Cancer (5) Metabolic Disease (6) Neurological Disease (3)
Oligonucleotides:	Cationic Lipids (1)

Inhibitors & Agonists

Screening Libraries

Biochemical Assay Reagents

Isotope-Labeled Compounds

Oligonucleotides

Cat. No.	Product Name	Target	Research Areas	Chemical Structure

HY-101203A

GJ103 sodium 1 Publications Verification	DNA/RNA Synthesis	Metabolic Disease Cancer
GJ103 sodium is a read-through compound that can induce read through of premature stop codons. GJ103 sodium has potential for the research of genetic disorders caused by nonsense mutations .

HY-134781

CKK-E12 1 Publications Verification	Liposome	Others
CKK-E12 is a ionizable lipid in combination with other lipids make up the lipid nanoparticles which are used to deliver RNA-based research. CKK-E12 is highly selective toward liver parenchymal cell in vivo,

HY-B0607

Nitisinone 2 Publications Verification NTBC; Nitisone; SC0735	HPPD	Metabolic Disease
Nitisinone is an orally active, competitive and reversible 4-hydroxyphenylpyruvate dioxygenase (4-HPPD) inhibitor with an IC₅₀ of 173 nM. Nitisinone promotes tyrosine accumulation in a dose-dependent manner. nitisinone can be used in studies of hereditary tyrosinemia type 1 (HT-1) (a rare genetic disorder) and albinism .

HY-101203

GJ103	Others	Metabolic Disease Cancer
GJ103 is a read-through compound that can induce read through of premature stop codons. GJ103 has potential for the research of genetic disorders caused by nonsense mutations .

HY-E70239

2-Methylbutyryl-CoA	Endogenous Metabolite	Others
2-Methylbutyryl-CoA is an intermediate of isoleucine metabolism. 2-Methylbutyryl-CoA dehydrogenase deficiency is a genetic disorder caused by mutations in the HADH2 gene .

HY-123359

RTC14	DNA/RNA Synthesis Dystrophin	Others
RTC14 is a read-through compound (RTC) that can induce ribosomes to bypass nonsense mutations in mRNA and allow the production of full-length functional proteins. RTC14 has the potential to be used in the research of various genetic disorders, such as nonsense mutations in the ataxia-telangiectasia mutated (ATM) gene and the dystrophin gene .

HY-153057

PRMT5-IN-46	Histone Methyltransferase	Metabolic Disease Cancer
PRMT5-IN-46 (compound 278) inhibits PRMT5 with IC₅₀s of 1-10 μM. PRMT5 is a methyltransferase which is associated with specific genetic alterations. PRMT5-IN-46 can be used for research of proliferative diseases, metabolic disorders, and blood diseases .

HY-16771B

Valbenazine dihydrochloride NBI-98854 dihydrochloride	Dopamine Receptor	Neurological Disease
Valbenazine (NBI-98854) dihydrochloride is a VMAT2 inhibitor, used to treat tardive dyskinesia. Valbenazine dihydrochloride demonstrates potential benefit in alleviating symptoms associated with movement disorders resulting from chronic dopamine receptor blocking medications. Valbenazine dihydrochloride has been supported by evidence from preclinical models examining its role in the genetic factors linked to tardive dyskinesia.

HY-B0607R

Nitisinone (Standard) NTBC (Standard); Nitisone (Standard); SC56735 (Standard)	HPPD	Metabolic Disease
Nitisinone (Standard) is the analytical standard of Nitisinone. This product is intended for research and analytical applications. Nitisinone is an orally active, competitive and reversible 4-hydroxyphenylpyruvate dioxygenase (4-HPPD) inhibitor with an IC₅₀ of 173 nM. Nitisinone promotes tyrosine accumulation in a dose-dependent manner. nitisinone can be used in studies of hereditary tyrosinemia type 1 (HT-1) (a rare genetic disorder) and albinism .

HY-B0607S

Nitisinone-d3 NTBC-d₃; Nitisone-d₃; SC0735-d₃	Isotope-Labeled Compounds HPPD	Metabolic Disease
Nitisinone-d₃ (NTBC-d₃) is deuterium labeled Nitisinone. Nitisinone is an orally active, competitive and reversible 4-hydroxyphenylpyruvate dioxygenase (4-HPPD) inhibitor with an IC₅₀ of 173 nM. Nitisinone promotes tyrosine accumulation in a dose-dependent manner. nitisinone can be used in studies of hereditary tyrosinemia type 1 (HT-1) (a rare genetic disorder) and albinism .

HY-W019815

N-Ethyl-N-nitrosourea ENU; N-Nitroso-N-ethylurea	DNA/RNA Synthesis	Neurological Disease Cancer
N-Ethyl-N-nitrosourea (ENU) is a DNA alkylating agent. N-Ethyl-N-nitrosourea induces leukemia by alkylating nucleobases, disrupting DNA, and resulting in bone marrow suppression and the formation of leukemic cells. N-Ethyl-N-nitrosourea is teratogenic in vivo, inducing tumor formation and paw malformations in pregnant rats. N-Ethyl-N-nitrosourea cause central nervous system (CNS) tumors and genetic disorders .

HY-164977

JCS-1	PROTACs Phosphatase	Cancer
JCS-1 is a potent DcpS PROTAC degrader. JCS-1 non-covalently binds DcpS with a RG3039-based warhead and recruits the E3 ligase VHL. JCS-1 promotes ubiquitination and degradation of DcpS at nanomolar concentrations (DC₅₀ in MOLM-14 cells: 87 nM). JCS-1 can be used for the research of AML and other DcpS-dependent genetic disorders (Pink: DcpS ligand (HY-102020); Blue: E3 ligase VHL ligand (HY-151227); Black: linker (HY-141230)) .

HY-12443

PF-5006739	Casein Kinase	Neurological Disease
PF-5006739 is a potent and selective inhibitor of CK1δ/ε with IC₅₀s of 3.9 nM and 17.0 nM, respectively. PF-5006739 is a potential therapeutic agent for a range of psychiatric disorders with low nanomolar in vitro potency for CK1δ/ε and high kinome selectivity. PF-5006739 attenuats opioid agent-seeking behavior in a rodent operant reinstatement model in animals in a dose-dependent manner . PF-5006739 improves glucose tolerance in both diet-induced obesity (DIO) and genetic (ob/ob) mice models of obesity .

Cat. No.	Product Name

HY-L090

Transcription Factor-Targeted Library	1,757 compounds
Transcription is the essential first step in the conversion of the genetic information in the DNA into protein and the major point at which gene expression is controlled. Transcription of protein-coding genes is accomplished by the multi-subunit enzyme RNA polymerase II and an ensemble of ancillary proteins, called transcription factors (TFs). Transcription factors play an important role in the long-term regulation of cell growth, differentiation and responses to environmental cues. Deregulated transcription factors contribute to the pathogenesis of a plethora of human diseases, ranging from diabetes, inflammatory disorders and cardiovascular disease to many cancers, and thus these proteins hold great therapeutic potential. MCE offers a unique collection of 1,757 compounds with validated transcription factor targets modulating properties. MCE transcription factor-targeted compound library is an effective tool for researching transcription factors as drug targets as well as modulation of TFs for different therapeutic applications.

Transcription Factor-Targeted Library

1,757 compounds

Transcription is the essential first step in the conversion of the genetic information in the DNA into protein and the major point at which gene expression is controlled. Transcription of protein-coding genes is accomplished by the multi-subunit enzyme RNA polymerase II and an ensemble of ancillary proteins, called transcription factors (TFs). Transcription factors play an important role in the long-term regulation of cell growth, differentiation and responses to environmental cues. Deregulated transcription factors contribute to the pathogenesis of a plethora of human diseases, ranging from diabetes, inflammatory disorders and cardiovascular disease to many cancers, and thus these proteins hold great therapeutic potential.

MCE offers a unique collection of 1,757 compounds with validated transcription factor targets modulating properties. MCE transcription factor-targeted compound library is an effective tool for researching transcription factors as drug targets as well as modulation of TFs for different therapeutic applications.

HY-L102

Rare Diseases Drug Library	1,815 compounds
Rare diseases are an important public-health issue and a challenge for the medical community. Most rare diseases are genetic disorders, which are often severely disabling, substantially affect life expectancy, and impair physical and mental abilities. Currently, there are about 7,000 identified rare diseases, together affecting 10% of the population. However, fewer than 6% of all rare diseases have an approved treatment option, highlighting their tremendous unmet needs in drug development. The process of repurposing drugs for new indications, compared with the development of novel orphan drugs, is a time-saving and cost-efficient method resulting in higher success rates, which can therefore drastically reduce the risk of drug development for rare diseases. MCE carefully collects a unique of 1,815 compounds studied in preclinical, clinical trials or approved used in rare diseases treatment. MCE rare diseases drug library is a useful tool for the research of rare diseases. All compounds can provide corresponding indications for rare diseases.

Rare Diseases Drug Library

1,815 compounds

Rare diseases are an important public-health issue and a challenge for the medical community. Most rare diseases are genetic disorders, which are often severely disabling, substantially affect life expectancy, and impair physical and mental abilities. Currently, there are about 7,000 identified rare diseases, together affecting 10% of the population. However, fewer than 6% of all rare diseases have an approved treatment option, highlighting their tremendous unmet needs in drug development. The process of repurposing drugs for new indications, compared with the development of novel orphan drugs, is a time-saving and cost-efficient method resulting in higher success rates, which can therefore drastically reduce the risk of drug development for rare diseases.

MCE carefully collects a unique of 1,815 compounds studied in preclinical, clinical trials or approved used in rare diseases treatment. MCE rare diseases drug library is a useful tool for the research of rare diseases. All compounds can provide corresponding indications for rare diseases.

HY-L917

RNA Binding Library	5,000 compounds
RNA is crucial for the regulation of numerous cellular processes and functions. With the in-depth study of disease mechanisms, processes such as RNA expression, splicing, translation, and stability regulation have become new targets for disease intervention. RNA has provided new therapeutic modalities for metabolic diseases, genetic disorders, and cancer patients, resulting in several innovative drugs. MCE R&D team collected small molecules targeting RNA from the PDB, R-BIND, ROBIN, and internal database as the positive dataset, and non-targeting RNA small molecules from ROBIN as the negative dataset. Based on the GeminiMol pre-trained model, we encoded the molecules and calculated over 1700 molecular descriptors using Mordred as inputs for the model. Subsequently, we employed 13 deep learning models to learn from the data. All of which yielded good training results, with AUROCs greater than 0.75. Ultimately, we selected the Finetune model to screen HY-L901P, which exhibited the best classification performance, achieving an AUROC of 0.82 and a prediction accuracy of 0.76. We then applied filtering based on StaR rules (with at least two of the following properties: cLogP ≥ 1.5, Molar Refractivity ≥ 4, Relative Polar Surface Area ≤ 0.3) to obtain a library containing approximately 5,000 small molecule compounds targeting RNA. This library serves as a valuable tool for screening small molecules that interact with RNA.

RNA Binding Library

5,000 compounds

RNA is crucial for the regulation of numerous cellular processes and functions. With the in-depth study of disease mechanisms, processes such as RNA expression, splicing, translation, and stability regulation have become new targets for disease intervention. RNA has provided new therapeutic modalities for metabolic diseases, genetic disorders, and cancer patients, resulting in several innovative drugs.

MCE R&D team collected small molecules targeting RNA from the PDB, R-BIND, ROBIN, and internal database as the positive dataset, and non-targeting RNA small molecules from ROBIN as the negative dataset. Based on the GeminiMol pre-trained model, we encoded the molecules and calculated over 1700 molecular descriptors using Mordred as inputs for the model. Subsequently, we employed 13 deep learning models to learn from the data. All of which yielded good training results, with AUROCs greater than 0.75. Ultimately, we selected the Finetune model to screen HY-L901P, which exhibited the best classification performance, achieving an AUROC of 0.82 and a prediction accuracy of 0.76. We then applied filtering based on StaR rules (with at least two of the following properties: cLogP ≥ 1.5, Molar Refractivity ≥ 4, Relative Polar Surface Area ≤ 0.3) to obtain a library containing approximately 5,000 small molecule compounds targeting RNA. This library serves as a valuable tool for screening small molecules that interact with RNA.

Cat. No.	Product Name	Type

HY-134781

CKK-E12 1 Publications Verification	Drug Delivery
CKK-E12 is a ionizable lipid in combination with other lipids make up the lipid nanoparticles which are used to deliver RNA-based research. CKK-E12 is highly selective toward liver parenchymal cell in vivo,

Cat. No.	Product Name	Chemical Structure

HY-B0607S

Nitisinone-d3
Nitisinone-d₃ (NTBC-d₃) is deuterium labeled Nitisinone. Nitisinone is an orally active, competitive and reversible 4-hydroxyphenylpyruvate dioxygenase (4-HPPD) inhibitor with an IC₅₀ of 173 nM. Nitisinone promotes tyrosine accumulation in a dose-dependent manner. nitisinone can be used in studies of hereditary tyrosinemia type 1 (HT-1) (a rare genetic disorder) and albinism .

Nitisinone-d3

Nitisinone-d₃ (NTBC-d₃) is deuterium labeled Nitisinone. Nitisinone is an orally active, competitive and reversible 4-hydroxyphenylpyruvate dioxygenase (4-HPPD) inhibitor with an IC₅₀ of 173 nM. Nitisinone promotes tyrosine accumulation in a dose-dependent manner. nitisinone can be used in studies of hereditary tyrosinemia type 1 (HT-1) (a rare genetic disorder) and albinism .

Cat. No.	Product Name		Classification

HY-134781

CKK-E12 1 Publications Verification		Cationic Lipids
CKK-E12 is a ionizable lipid in combination with other lipids make up the lipid nanoparticles which are used to deliver RNA-based research. CKK-E12 is highly selective toward liver parenchymal cell in vivo,

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