Results 31 to 40 of about 1,169 (119)

An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene

Stem Cell Research, 2019
The human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG
Haiyan Zhang, Yanyan Ma, Xiaomei Li, Xiaomeng Yang, Yue Li, Jingyun Guan, Rui Dong, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source

Different Gene Preferences of Maple Syrup Urine Disease in the Aboriginal Tribes of Taiwan

Pediatrics and Neonatology, 2014
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by a deficiency of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in any one of the three different genes encoding for the BCKD components, namely, BCKDHA,
Jia-Woei Hou, Tsann-Long Hwang
doaj   +1 more source

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation

Molecular Genetics and Metabolism Reports, 2021
Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluids ...
Laura Guilder, Carlos E. Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp, George Mazariegos, Suzanne Ratko, Ramona Salvarinova, Saadet Mercimek-Andrews   +8 more
doaj   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source

Adipocyte Myoglobin Is a Determinant of Energy Expenditure and a Potential Target to Limit Obesity

Advanced Science, Volume 13, Issue 51, 14 September 2026.
Myoglobin, known as a muscle oxygen‐carrying protein, is shown to play a key role in fat cells that burn energy. Loss of myoglobin reduces the body's ability to generate heat and increases obesity risk, while restoring it improves metabolism. The study identifies myoglobin as a regulator of fat burning and a potential target to enhance energy ...
Christian Strehlau, Helen Broghammer, Claudia Gebhardt, Anne Hoffmann, Tobias Hagemann, Şeyma Midilli, Rachel S. Zimmer, Kristin Schubert, Vasiliki Karagiannakou, Anastasia Georgiadi, Mario Ost, Martin Krüger, Lisa Roth, Kerstin Krause, Nora Klöting, Maria Keller, Martin Wabitsch, Rima Nuwayhid, Roland H. Stimson, Michael Stumvoll, Matthias Blüher, Juliane Weiner, John T. Heiker   +22 more
wiley   +1 more source

Amino Acid Metabolism in Health and Disease

MedComm, Volume 7, Issue 9, September 2026.
This graphical abstract delineates the multifaceted role of amino acid metabolism in health and disease. It illustrates how amino acids sustain physiological homeostasis across the liver, kidney, brain, heart, intestine, muscle, skeleton, and immune system.
Zhiwei Su, Jinyu Liu, Xiaoliang Deng, Yanqun Luo, Haiping Xue, Lei Wang, Lianjun Xing, Tao Wu   +7 more
wiley   +1 more source

Stress‐Induced Switch in Small Extracellular Vesicle Secretion: From Constitutive ‘Torn Bag Mechanism’ to Exocytosis

Journal of Extracellular Vesicles, Volume 15, Issue 8, August 2026.
Stress‐induced switch. Under stress conditions, small extracellular vesicle release shifts from the constitutive ‘torn bag mechanism’ to exocytosis of multivesicular endosomes. https://BioRender.com/xn1pa1e. ABSTRACT The biogenesis of small extracellular vesicles (sEVs) is only partially understood.
Dorina Lenzinger, Lilla Lankovics, István Dudás, Tünde Bárkai, Zsófia Szász, Mirjam Balbisi, Anthony Yan‐Tang Wu, Krisztina V. Vukman, Kelsey Fletcher, Attila Csomos, Zoltán Mucsi, Edina Bugyik, Csaba Cserép, Ádám Dénes, Szilvia Bősze, Lilla Turiák, Charles Pin‐Kuang Lai, Edit I. Buzás, Tamás Visnovitz   +18 more
wiley   +1 more source

Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease

Molecular Genetics & Genomic Medicine, 2020
Background Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease‐causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the multienzyme branched‐chain α ...
Thi T. N. Nguyen, Chi D. Vu, Ngoc L. Nguyen, Thi T. H. Nguyen, Ngoc K. Nguyen, Huy H. Nguyen   +5 more
doaj   +1 more source

Immune Dysregulation in Branched Chain Organic Acidemias

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological crises, growing evidence reveals a significant burden of chronic immune dysregulation in some disorders and ...
Abdul L. Shakerdi, Jack Drda, Justin A. Dutta, Jerry Vockley   +3 more
wiley   +1 more source

Dietary Leucine Supplementation Improves Muscle Fiber Growth and Development by Activating AMPK/Sirt1 Pathway in Blunt Snout Bream (Megalobrama amblycephala)

Aquaculture Nutrition, 2022
This research is aimed at evaluating the effects of leucine supplementation on muscle fibers growth and development of blunt snout bream through a feeding trial and a primary muscle cells treatment. An 8-week trial with diets containing 1.61% leucine (LL)
Mang-mang Wang, Hui-xing Guo, Yang-yang Huang, Wen-bin Liu, Xi Wang, Kang Xiao, Wei Xiong, Hao-kun Hua, Xiang-fei Li, Guang-zhen Jiang   +9 more
doaj   +1 more source