Results 51 to 60 of about 968 (157)

HPD is an m6A Methyltransferase that Protects Colorectal Cancer Cells from Ferroptotic Cell Death by m6A Methylating SLC7A11/GPX4

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study reveals that the tyrosine metabolic enzyme HPD functions as a previously uncharacterized, METTL3‐independent m6A methyltransferase. It promotes colorectal tumor progression by coordinately regulating the SLC7A11/GPX4 axis to suppress ferroptosis.
Jiyan Wang, Xintong Dai, Huanle Liu, Saiwei Hua, Hongkai Chang, Huanran Sun, Mingming Sun, Huifang Zhao, Kemin Ni, Fei Xie, Yaya Qiao, Qingle Gao, Chenxi Yu, Qijun Zhang, Jianshuang Guo, Chunze Zhang, Shuai Zhang, Changliang Shan   +17 more
wiley   +1 more source

Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index

JIMD Reports, 2022
Alkaptonuria (AKU) is a rare genetic disorder where oxidised homogentisic acid accumulates in connective tissues, leading to multisystem disease. The clinical evaluation Alkaptonuria Severity Score Index (cAKUSSI) is a composite score that assesses the ...
Harriet E. O. Cant, Iro Chatzidaki, Birgitta Olsson, Mattias Rudebeck, Jean‐Baptiste Arnoux, Richard Imrich, Lucy A. Eddowes, Lakshminarayan R. Ranganath   +7 more
doaj   +1 more source

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria [PDF]

Molecular Genetics and Metabolism, 2011
Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the catabolic pathway. As a result, homogentisic acid (HGA) accumulates and is excreted in gram quantities in the urine, which turns dark upon alkalization.
Wendy J, Introne, Monique B, Perry, James, Troendle, Ekaterini, Tsilou, Michael A, Kayser, Pim, Suwannarat, Kevin E, O'Brien, Joy, Bryant, Vandana, Sachdev, James C, Reynolds, Elizabeth, Moylan, Isa, Bernardini, William A, Gahl   +12 more
openaire   +2 more sources

Electronic structure and molecular properties of nitisinone and mesotrione in water

Journal of Molecular Modeling, 2023
Abstract Context Nitisinone is a medium-sized organic molecule that is used in treating hereditary tyrosinemia type 1 (HT-1). The structurally analogous mesotrione, however, is used as a pesticide/herbicide. What molecular properties are responsible for the similarity/dissimilarity of these molecules is investigated here.
Imrich, Richard, Štofko, Juraj, Boča, Roman, Rajnák, Cyril   +3 more
openaire   +2 more sources

Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone

Data in Brief, 2018
Alkaptonuria is a rare genetic disorder characterized by a high level of circulating (and urine) homogentisic acid (HGA), which contributes to ochronosis when it is deposited in connective tissue as a pigmented polymer.
R. Griffin, E.E. Psarelli, T.F. Cox, M. Khedr, A.M. Milan, A.S. Davison, A.T. Hughes, J.L. Usher, S. Taylor, N. Loftus, A. Daroszewska, E. West, A. Jones, M. Briggs, M. Fisher, M. McCormick, S. Judd, S. Vinjamuri, N. Sireau, J.P. Dillon, J.M. Devine, G. Hughes, J. Harrold, G.J. Barton, J.C. Jarvis, J.A. Gallagher, L.R. Ranganath   +26 more
doaj   +1 more source

Mouse characteristics that affect establishing xenografts from hepatocellular carcinoma patient biopsies in the United States

Cancer Medicine, 2022
Background Hepatocellular carcinoma (HCC) patient‐derived xenograft (PDX) models hold potential to advance knowledge in HCC biology to help improve systemic therapies. Beside hepatitis B virus‐associated tumors, HCC is poorly established in PDX.
Chenhui Zou, Imane El Dika, Koen O. A. Vercauteren, Marinela Capanu, Joanne Chou, Jinru Shia, Jill Pilet, Corrine Quirk, Gadi Lalazar, Linda Andrus, Mohammad Kabbani, Amin Yaqubie, Danny Khalil, Taha Mergoub, Luis Chiriboga, Charles M. Rice, Ghassan K. Abou‐Alfa, Ype P. de Jong   +17 more
doaj   +1 more source

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici   +3 more
wiley   +1 more source

Predictive Analysis for First Submission of Generic Drug Application for Orphan Drug Products Using Random Survival Forest

Clinical and Translational Science, Volume 18, Issue 10, October 2025.
ABSTRACT Rare diseases affect a small population of patients, resulting in low incentives for developing orphan drug products (ODPs). The United States Congress passed the Orphan Drug Act of 1983 to incentivize pharmaceutical manufacturers to develop drugs to treat rare diseases.
Robert Hopefl, Jing Wang, Abhinav Ram Mohan, Wei‐Jhe Sun, Myong‐Jin Kim, Meng Hu, Lanyan Fang   +6 more
wiley   +1 more source

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT The introduction of nitisinone (NTBC) and newborn screening for Tyrosinemia type 1 (TT1) enabled preemptive treatment of patients, thereby significantly improving outcomes by preventing liver, kidney, and neurological issues. Treatment goals have shifted from emergency treatment to long‐term care.
Allysa M. Kuypers, Anibh M. Das, Arianna Maiorana, M. Rebecca Heiner‐Fokkema, Francjan J. van Spronsen, The TT1 MetabERN Professional Collaboration Group, Diana Ballhausen, Lukasz Kaluzny, François‐Guillaume Debray, Yngve Thomas Bliksrud, Katarina Brennerova, Amaya Bélanger‐Quintana, Joanna Taybert, Yılmaz Yıldız, Ayşegül Tokatlı, Serap Sivri, Ali Dursun, Paula Sánchez Pintos, Amelie S. Lotz‐Havla, Ute Spiekerkoetter, Natalie Weinhold, Julia Neugebauer, Corinne de Laet, Agne Cerkauskaite Kerpauskiene, Andrea Bordugo, Fatma Derya Bulut, Pascale De Lonlay, Allan M. Lund, Dagmar Prochazkova, Ana Gaspar, Alessandro Rossi, Beata Kieć‐Wilk, Dorothea Haas, Eva Thimm, Javier de las Heras, Jiri Zeman, Marion Brands, Sarah Catharina Grünert, Margreet A. E. Wagenmakers, Francesco Porta, Urh Groselj   +40 more
wiley   +1 more source

Tailoring a Functional Synthetic Microbial Community Alleviates Fusobacterium nucleatum‐infected Colorectal Cancer via Ecological Control

Advanced Science, Volume 12, Issue 31, August 21, 2025.
The bottom‐up strategy based on multiomics data is used for the SynCom design, and it successfully inhibited F. nucleatum growth and achieved stable colonization in vivo. In addition, it promoted tryptophan metabolism and secondary bile acid conversion, reduced lipid accumulation, relieved microbiome disorder, decreased inflammatory reaction, and ...
Zhongkun Zhou, Mengyue Yang, Hong Fang, Baizhuo Zhang, Yunhao Ma, Yongyuan Li, Yingjie Liu, Zeying Cheng, Yuanchun Zhao, Zhenzhen Si, Hongmei Zhu, Peng Chen   +11 more
wiley   +1 more source