Results 91 to 100 of about 20,316 (189)

Maintenance of Carnitine Homeostasis as a Therapeutic Strategy to Attenuate Cisplatin‐Induced Acute Kidney Injury

Food Frontiers, Volume 7, Issue 2, March 2026.
ABSTRACT Acute kidney injury (AKI) has emerged as a significant global public health concern due to its high morbidity and mortality rates. Cisplatin, a highly effective and widely used chemotherapeutic agent, is often limited in clinical application by its nephrotoxicity, particularly AKI.
Mingkang Zhang, Yazhi Wang, Xiujuan Wang, Yan Zhou, Yanrong Ma, Xin'an Wu   +5 more
wiley   +1 more source

Nutrigenomics of the Mediterranean Diet: Gene–Diet Interactions and Bioactive Compounds in Cardiovascular Health

Food Frontiers, Volume 7, Issue 2, March 2026.
The Mediterranean diet interacts with genetic and epigenetic backgrounds to modulate nutrigenomic mechanisms, including DNA methylation, histone modification and microRNA regulation. These molecular effects reduce inflammation and oxidative stress, enhance nitric oxide bioavailability and lipid metabolism and translate into improved cardiometabolic ...
Karina Ramírez‐Alarcón, Ana María Labraña, Fernanda Carrasco‐Marín, Pilar Benítez‐Cid, Rafael Zapata‐Lamana, Xavier Capó, Margalida Monserrat‐Mesquida, Antoni Sureda, Héctor Contreras, Francisca Valenzuela‐Mella, Daniel Pacheco Bravo, Daniela Calina, Maria de la Luz Cádiz‐Gurrea, Antonio Segura‐Carretero, William N. Setzer, Javad Sharifi‐Rad, Miquel Martorell   +16 more
wiley   +1 more source

A Review of Newborn Screening for VLCADD: The Wisconsin Experience

International Journal of Neonatal Screening
Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is due to a defect in metabolism of long-chain fatty acids. Infants with VLCADD may experience cardiomyopathy, hypoglycemia, or even death; thus, early detection and intervention is crucial.
Breanna Mitchell, Jessica Scott-Schwoerer, Ashley Kuhl, Kristina Garcia, Patrice Held   +4 more
doaj   +1 more source

Prostaglandin D2 Synthase Controls Schwann Cells Metabolism and Peripheral Myelin Homeostasis

Glia, Volume 74, Issue 3, March 2026.
Prostaglandin D2 Synthase (L‐PGDS) controls PPNS myelin lipids’ composition and Schwann cells energetic metabolism In the absence of L‐PGDS Schwann cells turn to acetate as the main energetic source. These metabolic changes result in ketone bodies production to preserve neuronal survival.
Amelia Trimarco, Matteo Audano, Rosa La Marca, Marta Pellegatta, Paolo Canevazzi, Mariaconcetta Cariello, Marta Falco, Silvia Pedretti, Gabriele Imperato, Alessandro Cestaro, Paola Podini, Giorgia Dina, Angelo Quattrini, Luca Massimino, Donatella Caruso, Nico Mitro, Carla Taveggia   +16 more
wiley   +1 more source

Oleoylethanolamide regulates intestinal stem cell activity and villus size via PPARα signaling pathway

iMetaOmics, Volume 3, Issue 1, March 2026.
First use of a natural swine model with lipid metabolism to directly link lipid differences to a quantifiable intestinal villus height phenotype. Identified the phospholipid‐derived oleoylethanolamide, rather than canonical fatty acids, as the endogenous primary ligand that activates peroxisome proliferator‐activated receptors α (PPARα) to enlarge ...
Qianqian Wang, Lanmei Yin, Zhaobin Wang, Jun Li, Xianglin Zeng, Qiye Wang, Jianzhong Li, Kang Xu, Huansheng Yang, Yulong Yin   +9 more
wiley   +1 more source

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12‐transmembrane domain protein that exports the charged sugar N‐acetylneuraminic acid (Neu5Ac; sialic acid) out of the lysosome.
Zoe Wolfenson, Gabriella Grois, Ruth F. Hailemeskel, Marla Sabaii, Laryssa A. Huryn, Wadih M. Zein, Tanya Lehky, Audrey Thurm, Lisa Joseph, Eva H. Baker, Gilbert Vezina, Keith Hyland, Laura Pollard, Ellen Macnamara, Andrea Gropman, May C. Malicdan, William A. Gahl, David R. Adams, Lynne Wolfe   +18 more
wiley   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns

Translational Pediatrics, 2023
Tan, Yifei, Wang, Ling, Qi, Xiaoying, Feng, Qingbo, Luo, Hong   +4 more
openaire   +2 more sources

Epilepsy Phenotype and EEG Finding of Rhythmic High‐Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen, Chiadika Nwanze, Cesar Alves, Lance Rodan, Anna Lecticia Pinto, Melissa A. Walker, Irina Anselm, Phillip L. Pearl   +7 more
wiley   +1 more source

Palmitoyl-carnitine Regulates Lung Development by Promoting Pulmonary Mesenchyme Proliferation

Research
Disruption of acylcarnitine homeostasis results in life-threatening outcomes in humans. Carnitine–acylcarnitine translocase deficiency (CACTD) is a scarce autosomal recessive genetic disease and may result in patients’ death due to heart arrest or ...
Xing Liu, Sin Man Lam, Yu Zheng, Lesong Mo, Muhan Li, Tianyi Sun, Xiaohui Long, Shulin Peng, Xinwei Zhang, Mei Mei, Guanghou Shui, Shilai Bao   +11 more
doaj   +1 more source