Page last updated: 2024-11-02

4-phenylbutyric acid and Mental Retardation, X-Linked

4-phenylbutyric acid has been researched along with Mental Retardation, X-Linked in 5 studies

4-phenylbutyric acid: RN refers to the parent cpd
4-phenylbutyric acid : A monocarboxylic acid the structure of which is that of butyric acid substituted with a phenyl group at C-4. It is a histone deacetylase inhibitor that displays anticancer activity. It inhibits cell proliferation, invasion and migration and induces apoptosis in glioma cells. It also inhibits protein isoprenylation, depletes plasma glutamine, increases production of foetal haemoglobin through transcriptional activation of the gamma-globin gene and affects hPPARgamma activation.

Mental Retardation, X-Linked: A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's3 (60.00)24.3611
2020's2 (40.00)2.80

Authors

AuthorsStudies
Braun, D3
Bohleber, S1
Vatine, GD1
Svendsen, CN1
Schweizer, U3
Salazar, MD1
Zelt, NB1
Saldivar, R1
Kuntz, CP1
Chen, S1
Penn, WD1
Bonneau, R1
Koehler Leman, J1
Schlebach, JP1
El-Kasaby, A1
Kasture, A1
Koban, F1
Hotka, M1
Asjad, HMM1
Kubista, H1
Freissmuth, M1
Sucic, S1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy[NCT04937062]Early Phase 150 participants (Anticipated)Interventional2021-03-01Enrolling by invitation
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Other Studies

5 other studies available for 4-phenylbutyric acid and Mental Retardation, X-Linked

ArticleYear
Sodium Phenylbutyrate Rescues Thyroid Hormone Transport in Brain Endothelial-Like Cells.
    Thyroid : official journal of the American Thyroid Association, 2022, Volume: 32, Issue:7

    Topics: Biological Transport; Brain; Humans; Mental Retardation, X-Linked; Monocarboxylic Acid Transporters;

2022
Classification of the Molecular Defects Associated with Pathogenic Variants of the
    Biochemistry, 2020, 04-07, Volume: 59, Issue:13

    Topics: Brain Diseases, Metabolic, Inborn; Creatine; HEK293 Cells; Humans; Membrane Transport Proteins; Ment

2020
Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.
    Neuropharmacology, 2019, 12-15, Volume: 161

    Topics: Animals; Brain Diseases, Metabolic, Inborn; Calnexin; Cell Membrane; Creatine; Endoplasmic Reticulum

2019
Efficient Activation of Pathogenic ΔPhe501 Mutation in Monocarboxylate Transporter 8 by Chemical and Pharmacological Chaperones.
    Endocrinology, 2015, Volume: 156, Issue:12

    Topics: Animals; Cell Membrane; Cysteine Proteinase Inhibitors; Dimethyl Sulfoxide; Dogs; Genistein; Iodine

2015
The Chemical Chaperone Phenylbutyrate Rescues MCT8 Mutations Associated With Milder Phenotypes in Patients With Allan-Herndon-Dudley Syndrome.
    Endocrinology, 2017, 03-01, Volume: 158, Issue:3

    Topics: Animals; Antineoplastic Agents; Chlorocebus aethiops; Dogs; Drug Evaluation, Preclinical; Genistein;

2017