Results 51 to 60 of about 1,331 (171)

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

Identification of Novel Therapeutic Agent Candidates Through High Throughput Screening With Chemical Library Based on Molecular Subclassification in Canine Histiocytic Sarcoma Cell Lines

Veterinary and Comparative Oncology, Volume 24, Issue 3, Page 554-567, September 2026.
ABSTRACT Effective chemotherapy for canine histiocytic sarcoma (CHS) has yet to be established. In our previous study, CHS cell lines were subclassified into two groups based on their gene expression profiles: Group A and Group B. This study aimed to identify novel therapeutic agents that are effective against each CHS subgroup, and we performed high ...
Hiroki Sakuma, Hirotaka Tomiyasu, Mari Takamiya, Yuko Goto‐Koshino, Atsushi Tsukamoto, Makoto Bonkobara, Masaru Okuda   +6 more
wiley   +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

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  

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

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

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

Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients

, 2023
Nitisinone has been approved for treatment of alkaptonuria (AKU). Non-invasive biomarkers of joint tissue remodelling could aid in understanding the molecular changes in AKU pathogenesis and how these can be affected by treatment. Serological and urinary
Peder Frederiksen, Federica Genovese, Mattias Rudebeck, James A. Gallagher, Anne-Christine Bay-Jensen, Birgitta Olsson, Lakshminarayan R. Ranganath, Anna M. Milan, Morten A. Karsdal   +8 more
core   +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

Serum amino acid profiling in patients with alkaptonuria before and after treatment with nitisinone [PDF]

, 2018
Background: Alkaptonuria (AKU) is a rare inherited disorder of the tyrosine metabolic pathway. Our group is evaluating the use of the homogentisic acid-lowering agent nitisinone in patients with AKU.
Gallagher, JA, A. M. Milan, Devine, J, Milan, AM, E. A. Smith, Norman, BP, B. P. Norman, Khedr, M, Smith, EA, J. Usher, Hughes, AT, J. Devine, M. Khedr, Usher, J, A. S. Davison, J. A. Gallagher, Davison, AS, A. T. Hughes, L. R. Ranganath, Ranganath, LR   +19 more
core   +1 more source