Results 71 to 80 of about 3,137 (203)

Loss of fumarylacetoacetate hydrolase causes light‐dependent increases in protochlorophyllide and cell death in Arabidopsis [PDF]

The Plant Journal, 2019
SummaryFumarylacetoacetate hydrolase (FAH) catalyses the final step of the tyrosine degradation pathway, which is essential to animals but was of unknown importance in plants until we found that mutation of Short‐day Sensitive Cell Death1 (SSCD1), encoding Arabidopsis FAH, results in cell death under short‐day conditions.
Tiantian, Zhi, Zhou, Zhou, Bo, Qiu, Qi, Zhu, Xingyao, Xiong, Chunmei, Ren   +5 more
openaire   +2 more sources

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, Volume 3, Issue 6, November 2025.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Hepatic Differentiation of Murine Disease-Specific Induced Pluripotent Stem Cells Allows Disease Modelling In Vitro

Stem Cells International, 2011
Direct reprogramming of somatic cells into pluripotent cells by retrovirus-mediated expression of OCT4, SOX2, KLF4, and C-MYC is a promising approach to derive disease-specific induced pluripotent stem cells (iPSCs).
Reto Eggenschwiler, Komal Loya, Malte Sgodda, Francoise André, Tobias Cantz   +4 more
doaj   +1 more source

Markers of cognitive function in individuals with metabolic disease: Morquio Syndrome and Tyrosinemia Type III [PDF]

, 2018
We characterized cognitive function in two metabolic diseases. MPS–IVa (mucopolysaccharidosis IVa, Morquio) and tyrosinemia type III individuals were assessed using tasks of attention, language and oculomotor function.
Blundell, James, Chakrapani, Anupam, Frisson, S., Gissen, Paul, Hendriksz, Chris, Kearney, Shauna, MacDonald, Anita, Olson, Andrew, Vijay, Suresh   +8 more
core   +3 more sources

Complementary Muscle Metabolomics and Proteomics of Muscle in Cows With Post‐Calving Ketosis

Journal of Veterinary Internal Medicine, Volume 39, Issue 6, November/December 2025.
ABSTRACT Background The muscle tissue of dairy cows is a site of β‐hydroxybutyrate (BHBA) metabolism. The mechanisms underlying the changes in proteins and metabolites in the muscle tissue of cows with ketosis remain unclear. Objectives To elucidate the metabolic and physiological molecular adaptation mechanisms in the muscle tissue of cows with ...
Tao Tang, Jing Zhou, Jiahao Shao, Meigui Wang, Siqi Xia, Wenqiang Sun, Xianbo Jia, Jie Wang, Songjia Lai   +8 more
wiley   +1 more source

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

Intrablastocyst injection with human CD34⁺/CD133⁺ cells increase survival of immunocompetent fumarylacetoacetate hydrolase knockout mice [PDF]

Laboratory Animals, 2012
Mice harbouring a humanized liver represent a powerful tool for translating preclinical studies of drug metabolism and pharmacokinetics into humans, as well as the exploitation of basic studies on liver pathophysiology including hepatitis C virus (HCV) infection.
E. Marra, P. Turrini, TRIPODI, Marco, G. Ciliberto, J. Padron, L. Aurisicchio   +5 more
openaire   +2 more sources

Advances and Strategies in Enhancing mRNA Cancer Vaccines

Advanced Materials, Volume 37, Issue 42, October 23, 2025.
Messenger RNA (mRNA) vaccines offer a powerful approach for cancer immunotherapy, but their clinical impact remains limited by delivery challenges and suboptimal immune activation. This review discusses key biological barriers and design strategies—including structural optimization, immunomodulation, organ targeting delivery, and advanced nanocarriers ...
Miao Zhang, Shengqi Chen, Haijun Hu, Yenhui Ong, Qianqian Ni   +4 more
wiley   +1 more source

Modulation of serotonin signaling by the putative oxaloacetate decarboxylase FAHD-1 in Caenorhabditis elegans.

PLoS ONE, 2019
Human fumarylacetoacetate hydrolase (FAH) domain containing protein 1 (FAHD1) is a mitochondrial oxalocatate decarboxylase, the first of its kind identified in eukaryotes. The physiological role of FAHD1 in other eukaryotes is still poorly understood. In
Giorgia Baraldo, Solmaz Etemad, Alexander K H Weiss, Pidder Jansen-Dürr, Hildegard I D Mack   +4 more
doaj   +1 more source

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT The introduction of nitisinone (NTBC) and newborn screening for Tyrosinemia type 1 (TT1) enabled preemptive treatment of patients, thereby significantly improving outcomes by preventing liver, kidney, and neurological issues. Treatment goals have shifted from emergency treatment to long‐term care.
Allysa M. Kuypers, Anibh M. Das, Arianna Maiorana, M. Rebecca Heiner‐Fokkema, Francjan J. van Spronsen, The TT1 MetabERN Professional Collaboration Group, Diana Ballhausen, Lukasz Kaluzny, François‐Guillaume Debray, Yngve Thomas Bliksrud, Katarina Brennerova, Amaya Bélanger‐Quintana, Joanna Taybert, Yılmaz Yıldız, Ayşegül Tokatlı, Serap Sivri, Ali Dursun, Paula Sánchez Pintos, Amelie S. Lotz‐Havla, Ute Spiekerkoetter, Natalie Weinhold, Julia Neugebauer, Corinne de Laet, Agne Cerkauskaite Kerpauskiene, Andrea Bordugo, Fatma Derya Bulut, Pascale De Lonlay, Allan M. Lund, Dagmar Prochazkova, Ana Gaspar, Alessandro Rossi, Beata Kieć‐Wilk, Dorothea Haas, Eva Thimm, Javier de las Heras, Jiri Zeman, Marion Brands, Sarah Catharina Grünert, Margreet A. E. Wagenmakers, Francesco Porta, Urh Groselj   +40 more
wiley   +1 more source