Results 101 to 110 of about 24,432 (224)

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens, Udo F. H. Engelke, Ron A. Wevers, Dirk J. Lefeber, Purva Kulkarni   +4 more
wiley   +1 more source

Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants. [PDF]

Sci Rep, 2022
Sarodaya N, Tyagi A, Kim HJ, Kang JS, Singh V, Hong SH, Kim WJ, Kim KS, Ramakrishna S.   +8 more
europepmc   +1 more source

Effect of mutations at Cys²³⁷ on the activation state and activity of human phenylalanine hydroxylase [PDF]

, 1997
Per M. Knappskog, Aurora Martı́nez
openalex   +1 more source

Energy Metabolism Under Stress: Late‐Stage Leigh Syndrome Reveals Profound Cardiometabolic Perturbations in Ndufs4 KO Mice

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
Cardiac bioenergetic and metabolic perturbations in late‐stage Leigh syndrome. Whole‐body NDUFS4 loss severely impairs cardiac complex I activity and respiration, shifting reliance to complex II and reducing glycolytic, TCA, and amino acid‐derived energy‐generating substrates in the heart.
Karin Terburgh, Nastassja Sweeney, Roan Louw   +2 more
wiley   +1 more source

Thermodynamics of iron, tetrahydrobiopterin, and phenylalanine binding to phenylalanine hydroxylase from Chromobacterium violaceum. [PDF]

Arch Biochem Biophys, 2022
Li M, Subedi BP, Fitzpatrick PF, Emerson JP.   +3 more
europepmc   +1 more source

Successful Management of Two Consecutive Pregnancies With Maternal–Fetal Phenylketonuria: Lessons From Clinical Practice

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH), leading to the accumulation of phenylalanine (Phe) and an increased risk of developmental disorders. Treatment involves a Phe‐restricted diet, amino acid supplements, and for a subset of patients, a tetrahydrobiopterin (BH4 ...
Per Lundkvist, Karin Blom Malmberg, Linda Lindström, Andreas Kindmark   +3 more
wiley   +1 more source

Alchemical Design of Pharmacological Chaperones with Higher Affinity for Phenylalanine Hydroxylase. [PDF]

Int J Mol Sci, 2022
Conde-Giménez M, Galano-Frutos JJ, Galiana-Cameo M, Mahía A, Victor BL, Salillas S, Velázquez-Campoy A, Brito RMM, Gálvez JA, Díaz-de-Villegas MD, Sancho J.   +10 more
europepmc   +1 more source

Phosphopeptide analysis of phenylalanine hydroxylase isolated from liver cells exposed to hormonal stimuli [PDF]

, 1986
Michael J. Fisher, Alan J. Dickson, C I Pogson   +2 more
openalex   +1 more source

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, Volume 10, Issue 2, 22 January 2026.
The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu, Nei Li, Yudian Xiao, Rohan Palanki, Hannah Yamagata, Michael J. Mitchell, Xuexiang Han   +6 more
wiley   +1 more source

Identification and Characterization of Three Novel Biomarkers for Mixed/Cholestatic Drug‐Induced Liver Injury

Hepatology Research, Volume 56, Issue 1, Page 111-124, January 2026.
Three metabolites, pyroglutamylglycine (pyroGluGly), phenylalanine (Phe), and phenylalanyltryptophan (PheTrp), were identified as candidate DILI biomarkers. The serum concentrations of pyroGluGly, Phe, and PheTrp demonstrated a high differentiating ability in patients with mixed and cholestatic DILI compared with those in patients who recovered from ...
Kosuke Saito, Tatehiro Kagawa, Keiji Tsuji, Yuji Kumagai, Ken Sato, Shotaro Sakisaka, Naoya Sakamoto, Mitsuhiko Aiso, Shunji Hirose, Nami Mori, Toshio Uraoka, Kazuhide Takata, Koji Ogawa, Kazuhiko Mori, Motonobu Sato, Takayoshi Nishiya, Kazuhiko Takamatsu, Noriaki Arakawa, Takashi Izumi, Ruri Kikura‐Hanajiri, Yasuo Ohno, Yoshiro Saito, Hajime Takikawa   +22 more
wiley   +1 more source