Results 61 to 70 of about 1,396 (170)

Increased prevalence of Parkinson's disease in alkaptonuria

JIMD Reports, 2023
Amongst a cohort of 88 alkaptonuria (AKU) patients attending the United Kingdom National Alkaptonuria Centre (NAC), four unrelated patients had co‐existing Parkinson's disease (PD).
Lakshminarayan Ranganath, Milad Khedr, Anna M. Milan, Andrew S. Davison, Brendan P. Norman, Mirian C. H. Janssen, Edward Lock, George Bou‐Gharios, James A. Gallagher   +8 more
doaj   +1 more source

Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty

Molecular Genetics and Metabolism Reports
Background: Increased homogentisic acid (HGA) in alkaptonuria (AKU) causes severe arthritis. Nitisinone reduces the production of HGA, but whether it also decreases arthroplasty was examined in 237 AKU patients.
L.R. Ranganath, M. Khedr, B.P. Norman, J.H. Hughes, R. Imrich, J.B. Arnoux, B. Olsson, M. Rudebeck, J.A. Gallagher, G. Bou-Gharios   +9 more
doaj   +1 more source

Advances in CRISPR Base Editing: From Molecular Evolution to Therapeutic Applications in Genomic Medicine

Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.
ABSTRACT CRISPR‐Cas9 systems revolutionized gene editing, but inherent drawbacks, namely DNA double‐strand breaks (DSBs) and the difficulty of achieving precise repairs (due to low HDR efficiency), led researchers to invent new, more accurate gene editing tools.
Melike Aliciaslan, Ezgi Erbasan, Fulya Erendor, Salih Sanlioglu   +3 more
wiley   +1 more source

mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model

Molecular Therapy: Methods & Clinical Development, 2022
Hereditary tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by deficiency of fumarylacetoacetate hydrolase (FAH). Only limited treatment options (e.g., oral nitisinone) are available.
Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Sebastian Wirsching, Beate K. Straub, Jana Hauke, Jürgen G. Okun, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring   +11 more
doaj   +1 more source

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

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.
Imrich, Richard, Štofko, Juraj, Boča, Roman, Rajnák, Cyril   +3 more
openaire   +2 more sources

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

Evaluation of succinylacetone and nitisinone measurement: analytical performance requirements

, 2022
SSIEM22-2210Novel diagnostic/laboratory methods including omicsEvaluation of succinylacetone and nitisinone measurement: analytical performance requirementsList of authors:Ridvan Murat Öktem*⠀⠀1, Asli Inci⠀⠀1, Gürsel Biberoglu⠀⠀1, Ilyas Okur⠀⠀1, Fatih ...
Ezgü, Fatih Süheyl, İnci, Aslı, Öktem, Rıdvan Murat, Okur, İlyas, Tümer, Leyla, Biberoğlu, Gürsel   +5 more
core  

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