Results 61 to 70 of about 32,654 (265)

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT

Elektronički Zbornik Radova Veleučilišta u Šibeniku, 2022
Phenylketonuria is the most common inborn error of amino acid metabolism. It is caused by the impossibility of converting the essential amino acid phenylalanine into tyrosine, most often due to insufficient production or a complete lack of the enzyme ...
Nikolina Gaćina, Jerko Vučak
doaj   +1 more source

Origin and characterization of cyclodepsipeptides: Comprehensive structural approaches with focus on mass spectrometry analysis of alkali‐cationized molecular species

Mass Spectrometry Reviews, EarlyView.
Abstract Cyclodepsipeptides (CDPs) represent a huge family of chemically and structurally diverse molecules with a wide ability for molecular interactions. CDPs are cyclic peptide‐related natural products made up of both proteinogenic and nonproteinogenic amino acids linked by amide and ester bonds.
Sophie Liuu, Annelaure Damont, Alain Perret, Olivier Firmesse, François Becher, Gwenaëlle Lavison‐Bompard, Amandine Hueber, Amina S. Woods, Ekaterina Darii, François Fenaille, Jean‐Claude Tabet   +10 more
wiley   +1 more source

Chronic Immune Stimulation May Cause Moderate Impairment of Phenylalanine 4-hydroxylase

Pteridines, 2011
Phenylalanine (4)-hydroxylase (PAH, E.C. 1.14.16.1) is located mainly in liver and converts amino acid phenylalanine (Phe) to tyrosine (Tyr). In 'classical' phenylketonuria (PKU), PAH activity is reduced, whereas in 'atypical' PKU biosynthesis of the ...
Scholl-Bürgi S, Schroecksnadel S, Jenny M, Karall D, Fuchs D   +4 more
doaj   +1 more source

Microarray analysis of spring barley cultivars displaying differing sensitivity to physiological leaf spot (PLS) [PDF]

, 2015
peer-reviewedPhysiological leaf spot (PLS) is a disorder of spring barley (Hordeum vulgare L.), which has become more pronounced in recent years. The initial symptoms are small chlorotic/brown spots on the upper four leaves, which may develop into ...
Burke, James I., Dix, Philip J., Moran, Mary G.   +2 more
core   +1 more source

Binding Differences of the Peptide‐Substrate–Binding Domain of Collagen Prolyl 4‐Hydroxylases I and II for Proline‐ and Hydroxyproline‐Rich Peptides

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Collagen prolyl 4‐hydroxylase (C‐P4H) catalyzes the 4‐hydroxylation of Y‐prolines of the XYG‐repeat of procollagen. C‐P4Hs are tetrameric α2β2 enzymes. The α‐subunit provides the N‐terminal dimerization domain, the middle peptide‐substrate–binding (PSB) domain, and the C‐terminal catalytic (CAT) domain.
M. Mubinur Rahman, Ramita Sulu, Bukunmi Adediran, Hongmin Tu, Antti M. Salo, Sudarshan Murthy, Johanna Myllyharju, Rik K. Wierenga, M. Kristian Koski   +8 more
wiley   +1 more source

Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants

International Journal of Preventive Medicine
Background: There are more than 1100 different pathogenic variants in the phenylalanine hydroxylase (PAH) gene that are responsible for phenylketonuria (PKU) diseases, and the spectrum of these mutations varies in different ethnic groups.
Hossein Jalali, Daniel Zamanfar, Muhammad Amirzadegan, Farshide Ghadami, Mahan Mahdavi, Mohammad Reza Mahdavi   +5 more
doaj   +1 more source

Coenzyme Q10 deficiencies: pathways in yeast and humans. [PDF]

, 2018
Coenzyme Q (ubiquinone or CoQ) is an essential lipid that plays a role in mitochondrial respiratory electron transport and serves as an important antioxidant.
Awad, Agape M, Bradley, Michelle C, Clarke, Catherine F, Fernández-Del-Río, Lucía, Nag, Anish, Tsui, Hui S   +5 more
core  

Identification and characterization of the PhhR regulon in Pseudomonas putida [PDF]

, 2010
Pseudomonas putida is a soil microorganism that utilizes aromatic amino acids present in root exudates as a nitrogen source. We have previously shown that the PhhR transcriptional regulator induces phhAB genes encoding a phenylalanine hydroxylase.
Duque, Estrella, Fernandez Escamilla, Ana, Herrera, Carmen, Ramos, Juan Luis, Rodríguez Herva, Jose Juan   +4 more
core   +2 more sources

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, EarlyView.
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