Results 1 to 10 of about 2,210 (155)

A Phase 1 Study to Assess the Pharmacokinetics, Food Effect, Safety, and Tolerability of Sepiapterin in Healthy Japanese and Non-Japanese Participants [PDF]

Pharmaceuticals
Background: Sepiapterin is a natural precursor of tetrahydrobiopterin (BH4), a key cofactor for phenylalanine hydroxylase. It is being developed for the treatment of patients with phenylketonuria. In this study, the ethnic differences in pharmacokinetics
Neil Smith, Ronald Kong, Diksha Kaushik
exaly   +5 more sources

Ethnic Bridging of Sepiapterin in Chinese and Korean Populations Based on Predictions From Genetic Polymorphism of Breast Cancer Resistance Protein [PDF]

Clinical and Translational Science
Ethnic differences are crucial when considering the efficacy, safety, and dose of pharmaceuticals across diverse populations. The International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH) guideline E5 ...
Lan Gao, Neil Smith, Ronald Kong
doaj   +3 more sources

Structural and mechanistic insights into the divergence of pterin deaminase and sepiapterin deaminase [PDF]

Applied Microbiology and Biotechnology
Pterin deaminase and sepiapterin deaminase are key members of the amidohydrolase superfamily and play essential roles in pteridine metabolism across a wide range of biological systems.
Nivetha Shanmuganathan, Sasireka Manikandan, Jerimon Johnson, Sabaridaran Balasubramani, Angayarkanni Jayaraman, Sruthi Paleri, Theertha Ranjith, Thasleema Parveen A   +7 more
doaj   +2 more sources

Lower blood phenylalanine concentrations may be of clinical benefit in adults with phenylketonuria [PDF]

Molecular Genetics and Metabolism Reports
Background: Treatment in phenylketonuria (PKU) is aimed at lowering blood phenylalanine (Phe) levels, however the target blood Phe levels in adults with PKU are a matter of ongoing debate.
C.M.A. Lubout, A.M.J. van Wegberg, E. van Adrichem-van Dam, M.E. Jansen, E.M. van Steenis, M.R. Heiner-Fokkema, F.J. van Spronsen   +6 more
doaj   +2 more sources

A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF. [PDF]

J Inherit Metab Dis
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Christ S, Rossmann J, Richter S, Garbade S, Klinke G, Blau N, Hoffmann GF, Okun JG, Opladen T.   +8 more
europepmc   +2 more sources

Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial [PDF]

Journal of Comparative Effectiveness Research
What is this summary about? This plain language summary is based on an article about the APHENITY trial that was published in The Lancet journal in October 2024.
Ania C Muntau, Sarah Gallagher, Melissa Lah, Amaya Belanger-Quintana, Nicola Longo   +4 more
doaj   +2 more sources

No QTcF Prolongation with Sepiapterin: Results From a Thorough QT Study in Healthy Subjects at Therapeutic and Supratherapeutic Doses. [PDF]

J Clin Pharmacol
Abstract Sepiapterin and its major metabolite 6R‐L‐erythro‐5,6,7,8‐tetrahydrobiopterin (BH4) bind to distinct variants of phenylalanine hydroxylase (PAH), which converts excess phenylalanine to tyrosine, thereby stabilizing, enhancing, and prolonging PAH activity.
Gao L, Xue H, Darpo B, Ingalls K, Kaushik D, Smith N, Kong R, Golden L.   +7 more
europepmc   +2 more sources

Role of Nitric Oxide and Nrf2 to Counteract Vascular Endothelial Dysfunction Induced by Periodontal Pathogens Using HUVECs [PDF]

Cells
Background: Polybacterial infections associated with periodontitis are increasingly linked to systemic vascular complications, yet the underlying endothelial mechanisms remain unclear.
Gunaraj Dhungana, Chethan Sampath, Vineeta Sharma, Olga Korolkova, Pandu R. Gangula   +4 more
doaj   +2 more sources

Clinical Assessment of Breast Cancer Resistance Protein (BCRP)-Mediated Drug–Drug Interactions of Sepiapterin with Curcumin and Rosuvastatin in Healthy Volunteers [PDF]

Drugs in R&D
Background and Objective Sepiapterin, also known as PTC923 and CNSA-001, is a synthetic form of endogenous sepiapterin being developed as a novel oral treatment for phenylketonuria.
Lan Gao, Diksha Kaushik, Kimberly Ingalls, Sarah Milner, Neil Smith, Ronald Kong   +5 more
doaj   +2 more sources

Mapping the Severity of Phenylalanine Hydroxylase Deficiency. [PDF]

J Inherit Metab Dis
ABSTRACT Since the 1960s, phenylalanine hydroxylase (PAH) deficiency can be detected via newborn screening, allowing early start of treatment to prevent severe intellectual disability. Precise determination of PAH deficiency severity continues to be hampered by several factors.
Haitjema S, van Steenis EM, Lubout CMA, Heiner-Fokkema MR, Zschocke J, van Spronsen FJ.   +5 more
europepmc   +2 more sources