Results 41 to 50 of about 1,641 (186)

Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy

Molecules, 2023
Alkaptonuria (AKU) is a rare genetic autosomal recessive disorder characterized by elevated serum levels of homogentisic acid (HGA). In this disease, tyrosine metabolism is interrupted because of the alterations in homogentisate dioxygenase (HGD) gene ...
Sumera Zaib, Nehal Rana, Nadia Hussain, Hanan A. Ogaly, Ayed A. Dera, Imtiaz Khan   +5 more
doaj   +1 more source

Dietary methionine restriction started late in life promotes healthy aging in a sex-specific manner. [PDF]

Sci Adv
Aging is associated with dysregulated methionine metabolism and increased levels of enzymes in the tyrosine degradation pathway (TDP). To investigate the efficacy of targeting either methionine metabolism or the TDP for healthspan improvement in advanced
Hernández-Arciga U, Stamenkovic C, Yadav S, Nicoletti C, Albalawy WN, Al Hammood F, Gonzalez TF, Naikwadi MU, Graham A, Smarz C, Little GJ, Williams SG, McMahon B, Sipula IJ, Vandevender AM, Chuan B, Cooke D, Pinto AFM, Flores LC, Hartman HL, Diedrich JK, Brooke RT, Alder JK, Frahm KA, Pascal LE, Stolt E, Troensegaard H, Øvrebø B, Elshorbagy A, Molina E, Vinknes KJ, Tan RJ, Weisz OA, Bueno M, Eickelberg O, Steinhauser ML, Finkel T, Ables GP, Ikeno Y, Olsen T, Sacco A, Jurczak MJ, Sukoff Rizzo SJ, Parkhitko AA.   +43 more
europepmc   +3 more sources

Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review

Frontiers in Pediatrics, 2021
Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities.
Karim N. Daou, Abir Barhoumi, Abir Barhoumi, Amina Bassyouni, Pascale E. Karam, Pascale E. Karam   +5 more
doaj   +1 more source

Alkaptonuuriast põhjustatud aordiklapi kitsenemus, südame pärgarteri haigus, teisene osteoartroos ja nende kirurgiline ravi [PDF]

, 2013
Alkaptonuuria on haruldane, progresseeruv ja pöördumatu geneetiline ainevahetushaigus. Klassikalise kliinilise triaadina esinevad selle korral homogentisiinhappe eritus uriiniga, sidekoe (eriti kõhrkoe) pigmentatsioon ning degeneratiivne liigesepõletik ...
Jõeste, Enn, Kals, Jaak, Kass, Ants, Paapstel, Ants, Paapstel, Kaido, Peets, Tõnu   +5 more
core   +2 more sources

Dietary restriction of tyrosine and phenylalanine lowers tyrosinaemia associated with nitisinone therapy of alkaptonuria. [PDF]

, 2020
BACKGROUND: Alkaptonuria (AKU) is caused by homogentisate 1,2-dioxygenase deficiency that leads to homogentisic acid (HGA) accumulation, ochronosis and severe osteoarthropathy.
Bou-Gharios, G, Gallagher, JA, Hughes, AT, Hughes, JH, Jarvis, JC, Judd, S, Milan, AM, Ranganath, LR, Sutherland, H, Wilson, PJM   +9 more
core   +2 more sources

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

Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre

JIMD Reports, 2020
Background Increased homogentisic acid (HGA) causes ochronosis. Nitisinone decreases HGA. The aim was to study the effect of nitisinone on the ochronosis progression.
Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Milad Khedr, Andrew S. Davison, Peter J. Wilson, Jane P. Dillon, Elizabeth West, James A. Gallagher   +8 more
doaj   +1 more source

Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? [PDF]

, 2016
The hypothesis that is proposed is that tyrosinase, an enzyme widely found within the human body is implicated in the ochronosis that occurs in alkaptonuria; an autosomal recessive condition first used by Archibald Garrod to describe the theory of ...
Bleakley, Aaron, Kammath, Vishnu, Taylor, Adam Michael   +2 more
core   +1 more source

Simultaneous succinylacetone-nitisinone measurement in tyrosinemia type I patients and evaluation of nitisinone therapeutic range

, 2022
Abstract Introduction: In tyrosinemia type I (HT1) accumulation of succinylacetone causes severe hepatic and renal dysfunction and hepatocellular carcinoma, and the only drug used in the treatment is nitisinone (NTBC). While succinylacetone measurement from dried blood spots (DBS) is used in the diagnosis of patients, simultaneous measurements ...
Tümer, Leyla, Okur, İlyas, Biberoğlu, Gürsel, İnci, Aslı, Öktem, Rıdvan Murat, Ezgü, Fatih Süheyl   +5 more
openaire   +2 more sources

Electronic structure and molecular properties of nitisinone and mesotrione in water. [PDF]

J Mol Model, 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 R, Štofko J, Boča R, Rajnák C.
europepmc   +3 more sources