Results 11 to 20 of about 45,802 (236)

Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency

Orphanet Journal of Rare Diseases, 2022
Background Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid beta-oxidation.
Silvia Pata, Katherine Flores-Rojas, Angel Gil, Eduardo López-Laso, Laura Marti-Sánchez, Heydi Baide-Mairena, Belén Pérez-Dueñas, Mercedes Gil-Campos   +7 more
doaj   +1 more source

E2F1 Suppresses Oxidative Metabolism and Endothelial Differentiation of Bone Marrow Progenitor Cells [PDF]

, 2018
RATIONALE: The majority of current cardiovascular cell therapy trials use bone marrow progenitor cells (BM PCs) and achieve only modest efficacy; the limited potential of these cells to differentiate into endothelial-lineage cells is one of the major ...
Boriboun, Chan, Chandel, Navdeep S., Cheng, Min, Dong, Nian-Guo, Harris, Robert A., Huang, Kai, Liu, Qinghua, Losordo, Douglas W., Qin, Gangjian, Qiu, Hongyu, Shi, Jiawei, Sun, Tianjiao, Tao, Jun, Xu, Shiyue, Yang, Liu, Zhang, Eric, Zhao, Ting C., Zhou, Junlan   +17 more
core   +1 more source

Organic cation transporter 1 (OCT1) modulates multiple cardiometabolic traits through effects on hepatic thiamine content. [PDF]

, 2018
A constellation of metabolic disorders, including obesity, dysregulated lipids, and elevations in blood glucose levels, has been associated with cardiovascular disease and diabetes. Analysis of data from recently published genome-wide association studies
Abad, Janna, Calvert, Meredith E, Chen, Eugene C, Chen, Ligong, Chien, Huan-Chieh, Giacomini, Kathleen M, King, Sarah, Krauss, Ronald M, Liang, Xiaomin, Luo, Qi, Mifune, Arias, Norheim, Frode, Piao, Meiling, Yee, Sook Wah, Zou, Ling   +14 more
core   +3 more sources

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients

Orphanet Journal of Rare Diseases, 2020
Background The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits.
Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, Patrícia Janeiro, Anabela Oliveira, Daniel Gomes, Anabela Bandeira, Esmeralda Martins, Roseli Gomes, Sérgia Soares, Isabel Tavares de Almeida, João B. Vicente, Isabel Rivera   +16 more
doaj   +1 more source

Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety

Orphanet Journal of Rare Diseases, 2021
Background No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. In animal and cell models ketones decrease oxidative stress, increase antioxidants and scavenge free radicals, putting ketogenic ...
Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen, Saskia B. Wortmann   +3 more
doaj   +1 more source

BACE1 activity impairs neuronal glucose oxidation:rescue by beta-hydroxybutyrate and lipoic acid [PDF]

, 2015
Glucose hypometabolism and impaired mitochondrial function in neurons have been suggested to play early and perhaps causative roles in Alzheimer's disease (AD) pathogenesis. Activity of the aspartic acid protease, beta-site amyloid precursor protein (APP)
Arsenian, Bateman, Beal, Bielarczyk, Blass, Bogaert, Bosetti, Bouzier-Sore, Bubber, Butterworth, Casley, Casley, Caspersen, Coleman, Costantini, Danial, David L. Hamilton, DeKosky, DeKosky, Devi, Du, Fang, Forero, Fukumoto, Geula, Gibson, Giménez-Cassina, Guglielmotto, Gómez-Isla, Hager, Hamilton, Harada, Henderson, Henderson, Hirai, Holsinger, Huang, Hussain, Itoh, Jack, Jack, Jack, Jha, John A. Findlay, Johnson, Kankotia, Kawaja, Kim, Knopman, Ko, Korolainen, Lei, Li, Lustbader, Magistretti, Manczak, Martiskainen, Masdeu, Mastrogiacoma, Maurer, McKenna, Meakin, Michael L. J. Ashford, Mirshamsi, Mosconi, Mosconi, Mowrer, Mucke, Mullen, Nelson, Nilsen, Nunomura, O'Connor, Packer, Parker, Patel, Pereira, Perry, Phypers, Puglielli, Reger, Reiman, Sancheti, Shankar, Shearman, Sinha, Small, Sokoloff, Sorbi, Sowell, Swerdlow, Tyler, Vaishnavi, Vassar, Vassar, Velliquette, Vlassenko, von Kienlin, Wilkins, Wischmeyer, Wise, Xun, Yang, Yao, Yao, Zaidan, Zhang, Zhang, Zhao   +108 more
core   +6 more sources

Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]

, 2014
The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia, Giulivi, Cecilia, Napoli, Eleonora   +2 more
core   +1 more source

Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]

, 2020
Therapeutic enzymes are administered for the treatment of a wide variety of diseases. They exert their effects through binding with a high affinity and specificity to disease-causing substrates to catalyze their conversion to a non-noxious product, to ...
Bax, BE
core   +1 more source

Molecular mechanisms of the non-coenzyme action of thiamin in brain. Biochemical, structural and pathway analysis [PDF]

, 2015
Thiamin (vitamin B1) is a pharmacological agent boosting central metabolism through the action of the coenzyme thiamin diphosphate (ThDP). However, positive effects, including improved cognition, of high thiamin doses in neurodegeneration may be ...
Andrey, Vovk, Contestabile, Roberto, DI SALVO, Martino Luigi, Garik, Mkrtchyan, Lucien, Bettendorff, Parroni, Alessia, Thilo, Kaehne, Vasily, Aleshin, Victoria, Bunik, Yulia, Parkhomenko   +9 more
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Pyruvate dehydrogenase deficiency in a young boy: a clinical case [PDF]

Клиническая практика
BACKGROUND: Pyruvate dehydrogenase deficit is a severe hereditary mitochondrial metabolic disease characterized by impaired energy metabolism and manifested by a wide range of neurological symptoms.
Galina Yu. Poretskova, Elena A. Kalinina, Natalia N Korotkova, Olga G. Bolgarova, Natalia N. Kuznetsova, Shamil I. Gaisin, Elizaveta O. Beschastnaya   +6 more
doaj   +1 more source