Results 11 to 20 of about 624 (116)

Clinical and Experimental Applications of Sodium Phenylbutyrate [PDF]

Drugs in R & D, 2011
Histone acetyltransferase and histone deacetylase are enzymes responsible for histone acetylation and deacetylation, respectively, in which the histones are acetylated and deacetylated on lysine residues in the N-terminal tail and on the surface of the nucleosome core.
Iannitti T, PALMIERI, Beniamino
openaire   +3 more sources

Identification of enzymes involved in oxidation of phenylbutyrate [PDF]

Journal of Lipid Research, 2017
In recent years the short-chain fatty acid, 4-phenylbutyrate (PB), has emerged as a promising drug for various clinical conditions. In fact, PB has been Food and Drug Administration-approved for urea cycle disorders since 1996. PB is more potent and less toxic than its metabolite, phenylacetate (PA), and is not just a pro-drug for PA, as was initially ...
Palir, Neža, Ruiter, Jos P. N., Wanders, Ronald J. A., Houtkooper, Riekelt H.   +3 more
openaire   +4 more sources

Phenylbutyrate Induces Antimicrobial Peptide Expression [PDF]

Antimicrobial Agents and Chemotherapy, 2009
ABSTRACT Antimicrobial peptides (AMPs) are important components of our first line of defense. Induction of AMPs such as LL-37 of the cathelicidin family might provide a novel approach in treating bacterial infections. In this study we identified 4-phenylbutyrate (PBA) as a novel inducer of AMP expression and investigated affected
Jonas, Steinmann, Skarphédinn, Halldórsson, Birgitta, Agerberth, Gudmundur H, Gudmundsson   +3 more
openaire   +2 more sources

The effect of 4-phenylbutyrate and sodium 4-phenylbutyrate on genetic mutation diseases: A meta-analysis. [PDF]

Medicine (Baltimore)
Background: To determine the efficacy of 4-phenylbutyrate (4-PB) or sodium 4-phenylbutyrate (SPB) in treating diseases caused by genetic mutations. Methods: We searched PubMed, Web of Science, Cochrane Library, and EMBASE for studies of patients with genetic mutations treated with 4-
Tang W, Cai D, Song Y, Liao Z, Lian J.
europepmc   +3 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome

JPGN Reports, EarlyView.
Abstract Hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome is a rare metabolic condition that can cause lethargy, ataxia, tachypnea, nausea, vomiting, seizures, coma, and acute liver failure. We present a 26‐month‐old female with acute liver failure who was diagnosed with HHH 1 week after admission. Histology revealed an acute hepatitic
Tierra L. Mosher, Kathryn S. Czepiel, Matthew B. Neu, Andrea Carolina Cortes Fernandez, L. Walden Browne, Annie D. Niehaus, Roberto Gugig   +6 more
wiley   +1 more source

Remote Versus In‐Person Follow‐up Programming After Subthalamic Deep Brain Stimulation for Parkinson's Disease: A Multicenter Randomized Noninferiority Trial

Movement Disorders, EarlyView.
Abstract Background Remote programming of deep brain stimulation may improve access to specialized postoperative care for people with Parkinson's disease, but prospective randomized evidence remains limited. Objective We aimed to determine whether remote follow‐up programming after standardized inpatient initiation is noninferior to conventional in ...
Juhi Shaik, Weidong Zhang, Verena Zentsch, Carsten Buhmann, Ute Hidding, Thomas M. Kinfe, Martin Regensburger, Jost‐Julian Rumpf, Alfons Schnitzler, Jing Dong, Maximilian Scherer, Elisabeth Kaufmann, Johannes Levin, Alexander Crispin, Günter Höglinger, Jan H. Mehrkens, Thomas Koeglsperger   +16 more
wiley   +1 more source

Emerging insights into amino acid metabolism in the heart: implications for cardiovascular diseases and therapeutic targeting

British Journal of Pharmacology, EarlyView.
As a metabolically versatile organ, the heart is capable of generating energy from a wide range of substrates. Although fatty acid and glucose metabolism in the heart have been extensively studied, the contribution of amino acid metabolism to cardiac physiology and disease is gaining increasing attention.
Tayyiba Azam, Hongyuan Zhang, Min Zi, Chen Chen, Junfang Wu, Andreas Papapetropoulos, Xin Wang   +6 more
wiley   +1 more source

Frailty in Adults With Down Syndrome: Cognitive, Functional and Biomarker Associations

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Down syndrome (DS) entails widespread age‐related functional decline affecting multiple organ systems, including genetically determined early‐onset Alzheimer disease (DSAD), resulting in an increased vulnerability to frailty early in life.
Georg Nübling, Lena Marth, Katja Sandkühler, Anna Stockbauer, Elisabeth Wlasich, Alexander Jäck, Olivia Wagemann, Julia Kustermann, Steffen Halbgebauer, Hayrettin Tumani, Günter Höglinger, Johannes Levin   +11 more
wiley   +1 more source