Results 11 to 20 of about 288 (101)

A Comprehensive Review of Pegvaliase, an Enzyme Substitution Therapy for the Treatment of Phenylketonuria

Drug Target Insights, 2019
Objective: To review the pharmacology, pharmacokinetics, efficacy, safety, and place in therapy of a phenylalanine-metabolizing enzyme indicated to reduce blood phenylalanine concentrations, pegvaliase injection.
Tasmina Hydery, Valerie Azzopardi Coppenrath   +1 more
doaj   +2 more sources

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study

Orphanet Journal of Rare Diseases, 2018
Background Deficiency of phenylalanine hydroxylase causes phenylketonuria (PKU) with elevated phenylalanine (Phe) levels and associated neuropsychiatric and neurocognitive symptoms. Pegvaliase (PEGylated phenylalanine ammonia lyase) is an investigational
Nicola Longo, Roberto Zori, Melissa P. Wasserstein, Jerry Vockley, Barbara K. Burton, Celeste Decker, Mingjin Li, Kelly Lau, Joy Jiang, Kevin Larimore, Janet A. Thomas   +10 more
doaj   +2 more sources

Relationship Between Gut Microbiota and Phenylalanine Levels: A Mendelian Randomization Study. [PDF]

Microbiologyopen
This study showed that Family XIII AD3011 group was associated with reduced Phe levels, providing important evidence to reveal the interaction between gut microbiota and Phe levels, and providing a scientific basis for the development of personalized diet and nutrition recommendations for PKU patients.
Liu Z, Ye M, Jin H, Chen W, Jieens H, Han R.   +5 more
europepmc   +2 more sources

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases. [PDF]

J Inherit Metab Dis
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Gurung S, Perocheau D, Ghosh R, Hart SL, Baruteau J.   +4 more
europepmc   +2 more sources

Phenylketonuria [PDF]

, 2021
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction.
Bosch, Annet M., Longo, Nicola, Blau, Nenad, Burlina, Alberto, van Spronsen, Francjan J., Harding, Cary   +5 more
core   +2 more sources

Blood phenylalanine reduction reverses gene expression changes observed in a mouse model of phenylketonuria

Scientific Reports, 2021
Phenylketonuria (PKU) is a genetic deficiency of phenylalanine hydroxylase (PAH) in liver resulting in blood phenylalanine (Phe) elevation and neurotoxicity.
Rachna Manek, Yao V. Zhang, Patricia Berthelette, Mahmud Hossain, Cathleen S. Cornell, Joseph Gans, Gulbenk Anarat-Cappillino, Sarah Geller, Robert Jackson, Dan Yu, Kuldeep Singh, Sue Ryan, Dinesh S. Bangari, Ethan Y. Xu, Sirkka R. M. Kyostio-Moore   +14 more
doaj   +1 more source

Rational Design and Development of Polymeric Nanogels as Protein Carriers

Macromolecular Bioscience, Volume 23, Issue 12, December 2023., 2023
Polymer nanogels are promising carriers for therapeutic proteins. To guide their rational design toward specific pharmaceutical applications, key parameters are reviewed that determine protein‐nanogel interactions and discuss how these need to be considered during the loading procedure to maximize protein contents and minimize unwanted release ...
Clara López‐Iglesias, Daniel Klinger
wiley   +1 more source

Genetic etiology and clinical challenges of phenylketonuria

Human Genomics, 2022
This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the ...
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Ezzeldin N. Elhawary, Nagwa Gaboon, Mohammed Dandini, Abdulelah Madkhali, Wafaa Alosaimi, Abdulmajeed Alzahrani, Fawzia Aljohani, Ehab M. Melibary, Osama A. Kensara   +11 more
doaj   +1 more source

Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism

Clinical and Translational Science, Volume 16, Issue 12, Page 2438-2457, December 2023., 2023
Abstract This paper summarizes key features of the dose‐finding strategies used in the development of 11 approved new molecular entities that are first‐in‐class enzyme replacement therapy (ERT), with a goal to gain insight into the dose exploration approaches to inform efficient dose‐finding in future development of biological products for Inborn ...
Yuen Yi Hon, Jie Wang, Henrietta Abodakpi, Anand Balakrishnan, Michael Pacanowski, Sushanta Chakder, Patroula Smpokou, Kathleen Donohue, Yow‐Ming C. Wang   +8 more
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2023/24: Transporters

British Journal of Pharmacology, Volume 180, Issue S2, Page S374-S469, October 2023., 2023
The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000 interactions with about 3900 ligands. There is an emphasis on selective pharmacology (where available), plus links
Stephen P. H. Alexander, Doriano Fabbro, Eamonn Kelly, Alistair A. Mathie, John A. Peters, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +27 more
wiley   +1 more source