Results 91 to 100 of about 23,946 (202)

Hepatocyte Transplantation Using the Domino Concept in a Child with Tetrabiopterin Nonresponsive Phenylketonuria

Cell Transplantation, 2012
Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden.
X. Stéphenne, F. G. Debray, F. Smets, N. Jazouli, G. Sana, T. Tondreau, R. Menten, P. Goffette, F. Boemer, R. Schoos, S. W. Gersting, M. Najimi, A. C. Muntau, P. Goyens, E. M. Sokal M.D., Ph.D.   +14 more
doaj   +1 more source

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province. [PDF]

Front Genet, 2023
Zeng B, Lu Q, Chen S, Guan H, Xu X, Zou Y, Wang F, Huang S, Liu Y, Yang B.   +9 more
europepmc   +1 more source

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Tetrahydrobiopterin (BH4; sapropterin) responsiveness in phenylalanine hydroxylase (PAH) deficiency is genotype dependent, yet many patients remain untested. Allelic phenotype values (APV) summarize allele severity, but responsiveness can be heterogeneous within APV strata. We assessed whether integrating functional consequence annotation from
Nastassja Himmelreich, Nenad Blau
wiley   +1 more source

In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening. [PDF]

Children (Basel), 2023
Vela-Amieva M, Alcántara-Ortigoza MA, González-Del Angel A, Ibarra-González I, Fernández-Hernández L, Guillén-López S, López-Mejía L, Fernández-Lainez C.   +7 more
europepmc   +1 more source

Are Functional Brain Networks Sensitive to High Phenylalanine in Adults With Phenylketonuria?

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT In early‐treated adults with phenylketonuria (PKU), the effects of elevated phenylalanine (Phe) on functional brain networks remain poorly understood. While subacute structural brain changes have been reported, their functional significance remains unclear.
Vanessa Vallesi, Yosuke Morishima, Laura Winiger, Roman Trepp, Regula Everts, Raphaela Muri   +5 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

Design of Nanocarriers for Kidney Targeted Delivery of Nucleic Acid Therapeutics

Macromolecular Bioscience, Volume 26, Issue 7, July 2026.
Nucleic acid therapeutics have been investigated to expand their applications to renal genetic disorders. This review summarizes key considerations in the design and fabrication of nanocarriers for the systemic delivery of nucleic acid therapeutics to the kidneys.
Jun Hyuk Lee, Junku Han, Sehwan Park, Hyejung Mok   +3 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

RNA interference in crop protection: opportunities and challenges during the transition to commercialization

Pest Management Science, Volume 82, Issue 7, Page 5971-5986, July 2026.
RNA interference (RNAi) technologies, host‐induced gene silencing (HIGS) and spray‐induced gene silencing (SIGS), potentially offer sustainable crop protection. However, efficacy, costs, regulatory clarity, and socio‐environmental impacts require further evaluation for broader use.
Elisabetta Sergi, Anna Narduzzo, Alessandra Di Canito, Francesco Favaretto, Luca Nerva, Walter Chitarra, Lucia Bologna, Jacopo Bacenetti, Giuliana Maddalena, Simona Masiero, Ileana Vigentini, Gabriella De Lorenzis, Silvia Laura Toffolatti   +12 more
wiley   +1 more source

Comparative transcriptomic and metabolomic analysis reveals mechanisms of selenium-regulated anthocyanin synthesis in waxy maize (Zea mays L.)

Frontiers in Plant Science
Anthocyanins in maize (Zea mays L.) kernels determine the plant’s color and can enhance its resistance. Selenium (Se) significantly impacts plant growth, development, and secondary metabolic regulation.
Guangyu Guo, Guangyu Guo, Yufeng Wang, Baoku Zhang, Haoran Yu, Liang Li, Guanglu Cao, Baicui Chen, Chengxin Li, Fanshan Bu, Song Teng, Qingtao Yu, Mingbo Gao, Baiwen Jiang, Kejun Yang   +14 more
doaj   +1 more source