Results 111 to 120 of about 3,274 (204)

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

Molecular Genetics & Genomic Medicine, 2019
Background Tyrosinemia type 1 (HT1, MIM#276700) is caused by a deficiency in fumarylacetoacetate hydrolase (FAH) and it is associated with severe liver and renal disfunction. At present, the mutational FAH (15q25.1, MIM*613871) spectrum underlying HT1 in
Isabel Ibarra‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐Del Angel, Liliana Fernández‐Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varela‐Fascinetto, Marcela Vela‐Amieva   +9 more
doaj   +1 more source

FAHD1 and mitochondrial metabolism: a decade of pioneering discoveries

The FEBS Journal, Volume 292, Issue 12, Page 2973-2991, June 2025.
This paper reviews a decade of research on FAHD1, an important yet underappreciated enzyme in mitochondrial metabolism. FAHD1 plays a crucial role in energy production, oxidative stress regulation, and processes related to aging and overall health.
Elia Cappuccio, Max Holzknecht, Michèle Petit, Anne Heberle, Yana Rytchenko, Athanasios Seretis, Ciro L. Pierri, Hubert Gstach, Pidder Jansen‐Dürr, Alexander K. H. Weiss   +9 more
wiley   +1 more source

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

International Journal of Neonatal Screening, 2020
Tyrosinemia type I (TT1) is an inborn error of tyrosine metabolism with features including liver dysfunction, cirrhosis, and hepatocellular carcinoma; renal dysfunction that may lead to failure to thrive and bone disease; and porphyric crises. Once fatal
Jessica R. C. Priestley, Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan-Walters, Ligia Smith, Can Ficicioglu, Rebecca D. Ganetzky, Rebecca C. Ahrens-Nicklas   +8 more
doaj   +1 more source

FAH domain containing protein 1 (FAHD-1) is required for mitochondrial function and locomotion activity in C. elegans. [PDF]

PLoS ONE, 2015
The fumarylacetoacetate hydrolase (FAH) protein superfamily of metabolic enzymes comprises a diverse set of enzymatic functions, including ß-diketone hydrolases, decarboxylases, and isomerases.
Andrea Taferner, Haymo Pircher, Rafal Koziel, Susanne von Grafenstein, Giorgia Baraldo, Konstantinos Palikaras, Klaus R Liedl, Nektarios Tavernarakis, Pidder Jansen-Dürr   +8 more
doaj   +1 more source

The influence of microbiome‐derived amino acids metabolites in shaping the glioma immunosuppressive microenvironment

Interdisciplinary Medicine, Volume 3, Issue 3, May 2025.
Left: The disruption of the balance between carcinogenic bacteria and probiotics mediated by antibiotics, protein, and glucose intake. Middle: The gut microbiota‐derived amino acids, primarily through tryptophan, tyrosine, arginine, and branched‐chain amino acid pathways, regulate glioma development via mechanisms such as AHR activation, metabolic ...
Qianquan Ma, Zhihao Song, Chenlong Yang, Zijin Zhao, Guodong Tang, Jia You, Chong Zeng, Jun Yang, Qing Liu, Haoyu Li, Wei Huang   +10 more
wiley   +1 more source

Comet assay to measure DNA repair: approach and applications [PDF]

, 2014
Cellular repair enzymes remove virtually all DNA damage before it is fixed; repair therefore plays a crucial role in preventing cancer. Repair studied at the level of transcription correlates poorly with enzyme activity, and so assays of phenotype are ...
Amaya Azqueta, Andrew Collins, Isabel O’Neill Gaivão, Jana Slyskova, Sabine A. S. Langie   +4 more
core   +2 more sources

mRNA therapy: A new frontier in regenerative medicine

Interdisciplinary Medicine, Volume 3, Issue 2, March 2025.
This review discussed the potential of mRNA drugs in regenearative medicine, highlighting the key processes of mRNA therapy, focusing on therapeutic mRNA modification and delivery carriers. The preclinical and clinical studies of mRNA therapeutics for regeneration of cardiac, lung, liver, kidney, locomotor system, skin lesions and neurological ...
Ding‐Ding Xue, Yue Zhang, An‐Ran Shen, Tao‐Tao Tang, Bi‐Cheng Liu, Lin‐Li Lv   +5 more
wiley   +1 more source

Hormonal Contribution to Liver Regeneration

Mayo Clinic Proceedings: Innovations, Quality & Outcomes, 2020
An understanding of the molecular basis of liver regeneration will open new horizons for the development of novel therapies for chronic liver failure. Such therapies would solve the drawbacks associated with liver transplant, including the shortage of ...
Anan A. Abu Rmilah, MD, Wei Zhou, MD, PhD, Scott L. Nyberg, MD, PhD   +2 more
doaj   +1 more source

Nurr1 protein is required for N-Methyl-d-aspartic Acid (NMDA) receptor-mediated neuronal survival [PDF]

, 2012
NMDA receptor (NMDAR) stimulation promotes neuronal survival during brain development. Cerebellar granule cells (CGCs) need NMDAR stimulation to survive and develop.
Badiola Benito, Nahuai, Barneda Zahonero, Bruna, Fadó, Rut, Miñano Molina, Alfredo Jesús, Rodríguez Álvarez, José, Saura Antolín, Carlos A., Servitja i Duque, Joan-Marc   +6 more
core   +2 more sources

Emergency Management of Intoxication‐Type Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley   +1 more source