Results 51 to 60 of about 16,453 (233)

Immune activation and inflammation in patients with cardiovascular disease are associated with elevated phenylalanine-to-tyrosine ratios

Pteridines, 2013
Higher serum neopterin concentrations and kynurenine-to-tryptophan (Kyn/Trp) ratios are associated with increased mortality in patients with coronary artery disease (CAD). Preferentially, Th1-type cytokine interferon-γ stimulates tryptophan breakdown and
Mangge Harald, Schnedl Wolfgang J., Schröcksnadel Sebastian, Geisler Simon, Murr Christian, Fuchs Dietmar   +5 more
doaj   +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

PAH and QDPR deficiency associated mutations in the Novosibirsk region of the Russian Federation: Correlation of mutation type with disease manifestation and severity [PDF]

Journal of Medical Biochemistry, 2014
Background: Efficient treatment of inherited hyperphenylalaninemia requires exact identification of mutations defining the trait. Such knowledge is important both for effective individual therapy and understanding of the genetic history and evolution of ...
Baturina Olga A., Tupikin Alexey E., Lukjanova Tatyana V., Sosnitskaya Svetlana V., Morozov Igor V.   +4 more
doaj  

Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough?

Clinics and Practice, 2011
Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase gene, that can result in abnormal concentrations of phenylalanine on blood, resulting in metabolites that can cause brain damage. The treatment is based on dietary restriction
Mayara Thays Beckhauser, Mirella Maccarini Peruchi, Gisele Rozone de Luca, Katia Lin, Sofia Esteves, Laura Vilarinho, Jaime Lin   +6 more
doaj   +1 more source

Phenylalanine iminoboronates as new phenylalanine hydroxylase modulators

RSC Adv., 2014
Herein we report the discovery of new modulators of human phenylalanine hydroxylase (hPAH) inspired by the structure of its substrate and regulatorl-phenylalanine.
Rita C. Guedes, Gonçalo D. V. F. Farias, Paulo R. Lino, Francesco Montalbano, Paula Leandro, João Leandro, Pedro M. P. Gois, João B. Vicente   +7 more
openaire   +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

Stress in dipteran insects mass‐reared for sterile insect technique applications

Insect Science, EarlyView.
The connections between biotic and abiotic stress affecting mass‐reared dipteran insects and the associated stress and immunological responses. Numbers indicate the order in which the topics are discussed in this review. Abstract Stress may be viewed as the disturbance of homeostasis of an organism.
Caroline K. Mirieri, Vera I.D. Ros, Adly M.M. Abd‐Alla, Monique M. van Oers   +3 more
wiley   +1 more source

Late‐onset multiple system atrophy: Neuropathological features associated with slow disease progression

Brain Pathology, EarlyView.
Late‐onset multiple system atrophy (LO‐MSA; onset ≥75 years) shows milder degeneration of the striatonigral and olivopontocerebellar systems and serotonergic neurons in the ventrolateral medulla than usual‐age‐onset MSA with a similar disease duration. LO‐MSA may therefore exhibit slower pathological progression.
Misato Ozawa, Rie Saito, Takuya Konno, Yasuko Kuroha, Tetsuhiko Ikeda, Akio Yokoseki, Takashi Tani, Tomoe Sato, Jiro Idezuka, Reiji Koide, Shigeru Fujimoto, Osamu Onodera, Mari Tada, Akiyoshi Kakita   +13 more
wiley   +1 more source

Biopterin responsive phenylalanine hydroxylase deficiency [PDF]

Genetics in Medicine, 2004
Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene. There have been more than 400 mutations identified in the PAH gene leading to variable degrees of deficiency in PAH activity, and consequently a wide spectrum of clinical severity.
Anne Romstad, Kathryn Moseley, Sankar Surendran, Alejandra Gámez, Stephen K. Tyring, Richard Koch, Reuben Matalon, Lisbeth Birk Møller, Raymond C. Stevens, Kimberlee Michals-Matalon, Kimberlee Michals-Matalon, Heidi Erlandsen, Flemming Güttler   +12 more
openaire   +3 more sources