Results 31 to 40 of about 1,688 (193)

Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria

Metabolites, 2022
Background: Nitisinone-induced hypertyrosinaemia is well documented in Alkaptonuria (AKU), and there is uncertainty over whether it may contribute to a decline in cognitive function and/or mood by altering neurotransmitter metabolism.
Andrew S. Davison, Brendan P. Norman, Hazel Sutherland, Anna M. Milan, James A. Gallagher, Jonathan C. Jarvis, Lakshminarayan R. Ranganath   +6 more
doaj   +1 more source

Long‐term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression

JIMD Reports, 2022
Little is documented on whether nitisinone‐induced hypertyrosinaemia alters cognitive functioning or leads to worsening depression in alkaptonuria (AKU). Wechsler Adult Intelligence Scale‐IV (WAIS‐IV) and Beck Depression Inventory‐II (BDI‐II) assessments
Andrew S. Davison, Gin Hughes, Joanne A. Harrold, Pam Clarke, Rebecca Griffin, Lakshminarayan R. Ranganath   +5 more
doaj   +1 more source

Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients

JIMD Reports, 2022
Homogentisic acid (HGA) lowering, disease modifying off‐label nitisinone therapy has been used in the United Kingdom National Alkaptonuria Centre (NAC) since 2012.
Mohammad S. Z. Ahmad, Mahmoud Ahmed, Milad Khedr, Alfredo Borgia, Andrea Madden, Lakshminarayan R. Ranganath, Stephen Kaye   +6 more
doaj   +1 more source

β-Cyclodextrin Derivative Grafted on Silica Gel Represents a New Polymeric Sorbent for Extracting Nitisinone from Model Physiological Fluids

Molecules, 2021
Nitisinone (NTBC) is used in the treatment of disorders affecting the tyrosine pathway, including hereditary tyrosinemia type I, alkaptonuria, and neuroblastoma.
Magdalena Danek, Anna Korytkowska-Wałach, Hanna Barchańska   +2 more
doaj   +1 more source

A Novel Genetic Screen Identifies Modifiers of Age-Dependent Amyloid β Toxicity in the Drosophila Brain [PDF]

, 2017
The accumulation of amyloid β peptide (Aβ) in the brain of Alzheimer's disease (AD) patients begins many years before clinical onset. Such process has been proposed to be pathogenic through the toxicity of Aβ soluble oligomers leading to synaptic ...
Belfiori Carrasco, Lautaro Francisco, Bocai, Nadia Irina, Castaño, Eduardo Miguel, Ceriani, Maria Fernanda, Marcora, Maria Silvina, Morelli, Laura   +5 more
core   +1 more source

Metabolic Effects of Acute Thiamine Depletion Are Reversed by Rapamycin in Breast and Leukemia Cells [PDF]

, 2014
Thiamine-dependent enzymes (TDEs) control metabolic pathways that are frequently altered in cancer and therefore present cancer-relevant targets. We have previously shown that the recombinant enzyme thiaminase cleaves and depletes intracellular thiamine,
A Daily, AA Thomas, Aamir Ahmad, AM Evans, CA Costello, CD Dehaven, Christina Wiedl, Craig T. Jordan, Daret K. St. Clair, DC Hassane, JA Zastre, Jeffrey A. Moscow, M Casteels, Mignon A. Keaton, S Liu, S Liu, S Liu, S Liu, S Santra, Shuqian Liu, SM Hutson, Sumitra Miriyala, T Ohta, Y Le Huerou   +23 more
core   +8 more sources

Anthropometric, Body Composition, and Nutritional Indicators with and without Nutritional Intervention during Nitisinone Therapy in Alkaptonuria [PDF]

Nutrients
Milad Khedr, Anna M Milan, Andrew S Davison   +2 more
exaly   +2 more sources

A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria [PDF]

, 2016
Objectives Alkaptonuria is a rare autosomal recessive condition resulting from inability to breakdown homogentisic acid (HGA); an intermediate in tyrosine degradation.
Bukhari, Marwan, Jackson, Daniel, Mistry, Jemma, Taylor, Adam   +3 more
core   +1 more source

Tyrosine Metabolism [PDF]

, 2022
Inherited disorders of tyrosine catabolism have been identified at five of the six enzymatic steps. Under normal conditions tyrosine concentrations are regulated by its synthetic enzyme (phenylalanine hydroxylase) and especially the first catabolic ...
Burlina, Alberto, Van Spronsen, Francjan J., Vici, Carlo Dionisi   +2 more
core   +3 more sources

Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1

Metabolism Open, 2021
Background: Tyrosinemia type 1 (hepatorenal tyrosinemia, HT1) is a rare autosomal recessive inborn error of tyrosine metabolism caused by deficiency of the last enzyme in the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH) leading to ...
Imad Dweikat, Nada Qawasmi, Aysha Najeeb, Mohammad Radwan   +3 more
doaj   +1 more source