Results 81 to 90 of about 3,137 (203)

Successive Drug Therapy for a Very Rare Autosomal Diseases [PDF]

, 2019
It is very rare to find reports concerning a drug therapy successively treating chromosomal abnormalities. In this paper, we are reporting a successive use of nitisinone in treating a fatal and very rare autosomal disease called hereditary tyrosinemia ...
Al-Noaemi, Mohammed Chyad, Daghriri, Hassan Ali   +1 more
core   +2 more sources

Comparative Study of the Mitochondrial Proteome From Mesophyll, Vascular, and Guard Cells in Response to Carbon Starvation

Physiologia Plantarum, Volume 177, Issue 5, September/October 2025.
ABSTRACT A leaf is an organ composed of different tissues that fulfill specific functions. We hypothesized that since cells in vascular or mesophyll tissues as well as in stoma are developmentally tuned to operate their functions, mitochondria from these cells could exhibit significant metabolic differences.
Clément Boussardon, Shah Hussain, Olivier Keech   +2 more
wiley   +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

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

Transcriptome analysis to identify genes related to programmed cell death resulted from manipulating of BnaFAH ortholog by CRISPR/Cas9 in Brassica napus

Scientific Reports
Fumarylacetoacetate hydrolase (FAH) catalyzes the final step of the tyrosine degradation pathway. In this study, we isolated and characterized two homologous BnaFAH genes in Brassica napus L.
Zhou Zhou, Tiantian Zhi, Jie Zou, Gang Chen   +3 more
doaj   +1 more source

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

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

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain [PDF]

, 2019
Nephrocalcinosis; Phenotype; Severe liver dysfunctionNefrocalcinosis; Fenotipo; Disfunción hepática graveNefrocalcinosi; Fenotip; Disfunció hepàtica greuTreatment with nitisinone (NTBC) has brought about a drastic improvement in the treatment and ...
Aldámiz-Echevarría, Luís, Couce, María Luz, Martín-Hernández, Elena, Navas, Victor, Pintos Morell, Guillem, Sánchez-Pintos, Paula, Vitoria, Isidro   +6 more
core   +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

Discovery of anthelmintic drug targets and drugs using chokepoints in nematode metabolic pathways [PDF]

, 2013
Parasitic roundworm infections plague more than 2 billion people (1/3 of humanity) and cause drastic losses in crops and livestock. New anthelmintic drugs are urgently needed as new drug resistance and environmental concerns arise. A "chokepoint reaction"
Abubucker, Sahar, Huang, Stanley Ching-Cheng, Mitreva, Makedonka, Pearce, Edward J, Powell, Kerrie, Rosa, Bruce A, Schedl, Tim, Taylor, Christina M, Wang, Qi   +8 more
core   +4 more sources