Results 41 to 50 of about 1,288 (135)

Hereditary disorders of pyrimidines and purine metabolism associated with intellectual disability [PDF]

, 2019
Actualizar al lector en los trastornos hereditarios del metabolismo de pirimidinas y las purinas relacionadas con discapacidad intelectual. Materiales y métodos: Se analizó la literatura disponible de los últimos 60 años en las bases de datos BBCS-LILACS,
Castro, Juan Carlos, Osorio, Dulcinea, Osorio, José Henry   +2 more
core   +2 more sources

Metabolism Meets Translation: Dietary and Metabolic Influences on tRNA Modifications and Codon Biased Translation

WIREs RNA, Volume 16, Issue 2, March/April 2025.
Diet influences tRNA modifications and metabolism. Metabolic processes are essential for the synthesis of many tRNA modifications, which can impact metabolism by altering mRNA translation and bioenergetics pathways. We discuss the importance of studying tRNA modifications from the viewpoint of cellular metabolism to fully grasp the complexity of ...
Sherif Rashad, Aseel Marahleh
wiley   +1 more source

Mitochondrial disease in children : from clinical presentation to genetic background [PDF]

, 2017
Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain.
Naess, Karin
core   +1 more source

Identification of CSPG4 as a Biomarker and Therapeutic Target for Infantile Post‐Hemorrhagic Hydrocephalus via Multi‐Omics Analysis

Advanced Science, Volume 12, Issue 6, February 10, 2025.
This study demonstrates that over‐representation of ferroptosis, calcium, calcium ion binding, and cell adhesion signaling pathways in cerebrospinal fluid is associated with infantile post‐hemorrhagic hydrocephalus (PHH). Importantly, the expression level of CSPG4 is correlated with PHH progression; and CSPG4 silencing suppresses the dysregulation of ...
Juncao Chen, Lin Wang, Xiangwen Peng, Tingting Cheng, Yihui Yang, Jingzhen Su, Hongmei Zou, Siyao Wang, Yueting Mao, Lixiang Wu, Xuntao Yin, Minxu Li, Mingwei Zhu, Wei Zhou   +13 more
wiley   +1 more source

Standard Protocols for Characterising Primary and In Vitro‐Generated Human Hepatocytes

Journal of Cellular and Molecular Medicine, Volume 29, Issue 3, February 2025.
ABSTRACT Hepatocyte‐like cells (HLCs) derived from pluripotent stem cells (PSCs) or direct reprogramming are an unlimited source of human hepatocytes for biomedical applications. HLCs are used to model human diseases, develop precise drugs and establish groundbreaking regenerative cell‐based therapies.
Zahra Heydari, Roberto Gramignoli, Abbas Piryaei, Ensieh Zahmatkesh, Paria Pooyan, Homeyra Seydi, Andreas Nussler, Dagmara Szkolnicka, Hassan Rashidi, Mustapha Najimi, David C. Hay, Massoud Vosough   +11 more
wiley   +1 more source

Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels [PDF]

, 2020
Saliva, as a biofluid, is inexpensive and non-invasive to obtain, and provides a vital tool to investigate oral health and its interaction with systemic health conditions.
Bowyer R. C. E., Kastenmuller G., Kocher T., Kurushima Y., Mangino M., Menni C., Milburn M. V., Mohney R. P., Nag A., Pietzner M., Raffler J., Spector T. D., Steves C. J., Suhre K., Volker U., Weiss S., Wells P. M.   +16 more
core   +1 more source

Antivirals in COVID‐19: A Focus on Pediatric Cardiac Patients

Canadian Journal of Infectious Diseases and Medical Microbiology, Volume 2025, Issue 1, 2025.
The COVID‐19 pandemic created an unprecedented public health crisis, driven by its rapid global spread and the urgent need for worldwide collaborative interventions to contain it. This urgency spurred the search for therapeutic agents to prevent or manage the infection.
Dalia Safi, Farah Khouri, Rana Zareef, Mariam Arabi, Timotius Ivan Hariyanto   +4 more
wiley   +1 more source

Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency [PDF]

, 1980
Purine and pyrimidine metabolism was compared in erythrocytes from three patients from two families with purine nucleoside phosphorylase deficiency and T-cell immunodeficiency, one heterozygote subject for this enzyme deficiency, one patient with a ...
A. Cohen, A. Cohen, A. Cohen, A. Cohen, A. S. Bagnara, A. S. Bagnara, D. P. Brenton, E. Kaukel, E. R. Giblett, E. R. Giblett, E. W. Gelfand, E. W. Gelfand, F. F. Snyder, F. F. Snyder, F. M. Rosenbloom, F. M. Rosenbloom, G. Nuki, G. Planet, H. Green, H. Hilz, H. J. Meuwissen, I. H. Fox, I. H. Fox, I. H. Fox, I. H. Fox, I. H. Fox, I. H. Fox, I. H. Fox, I. H. Fox, J. E. Seegmiller, J. F. Henderson, J. F. Henderson, J. W. Stoop, K. C. Rich, K. Ishii, L. H. Siegenbeek van Heukelom, M. Hamet, M. Lesch, M. S. Coleman, N. L. Edwards, N. L. Edwards, O. H. Lowry, P. S. Chen Jr., R. D. Agarwal, R. L. Wortmann, T. D. Beardmore, W. B. Weyden Van der, W. N. Kelley, W. N. Kelley, Y. H. Edwards   +49 more
core   +1 more source

Genetic and Epigenetic Factors Contributing to Autism Spectrum Disorders [PDF]

, 2009
Autism spectrum disorders represent a group of developmental disorders with strong genetic predisposition, including numerous monogenic disorders and chromosomal abnormalities.
Chung, BHY
core  

Recognition, investigation and management of mitochondrial disease [PDF]

, 2017
Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are ...
Davison, JE, Rahman, S
core   +1 more source