Results 51 to 60 of about 33,228 (280)

Neonatal Screening for Primary Carnitine Deficiency: Lessons Learned from the Faroe Islands

International Journal of Neonatal Screening, 2017
Primary carnitine deficiency is caused by the defective OCTN2 carnitine transporter encoded by the SLC22A5 gene. A lack of carnitine impairs fatty acid oxidation resulting in hypoketotic hypoglycemia, hepatic encephalopathy, skeletal and cardiac myopathy,
Ulrike Steuerwald, Allan M. Lund, Jan Rasmussen, Nils Janzen, David M. Hougaard, Nicola Longo   +5 more
doaj   +1 more source

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

Regulation of genes involved in carnitine homeostasis by PPARa across different species (rat, mouse, pig, cattle, chicken, and human) [PDF]

, 2012
Recent studies in rodents convincingly demonstrated that PPAR-alpha is a key regulator of genes involved in carnitine homeostasis, which serves as a reasonable explanation for the phenomenon that energy deprivation and fibrate treatment, both of which ...
Egeri, Leonie, Forkmann, Thomas, Gläsmer, Heide, Margraf, Jürgen, Teismann, Tobias   +4 more
core   +1 more source

Essential lipid autacoids rewire mitochondrial energy efficiency in metabolic dysfunction‐associated fatty liver disease

Hepatology, EarlyView., 2022
Increased liver content of DHA‐derived small lipid autacoids (i.e resolvin D1 and maresin 1) associates with enhanced mitochondrial oxidative phosphorylation, fatty acid β‐oxidation and bioenergetic metabolic flux. These features provide hepatic protection from steatotic, pro‐inflammatory and fibrogenic insults.
Cristina López‐Vicario, David Sebastián, Mireia Casulleras, Marta Duran‐Güell, Roger Flores‐Costa, Ferran Aguilar, Juan José Lozano, Ingrid W. Zhang, Esther Titos, Jing X. Kang, Antonio Zorzano, Makoto Arita, Joan Clària   +12 more
wiley   +1 more source

Special topic: The association between pulse ingredients and canine dilated cardiomyopathy: addressing the knowledge gaps before establishing causation. [PDF]

, 2019
In July 2018, the Food and Drug Administration warned about a possible relationship between dilated cardiomyopathy (DCM) in dogs and the consumption of dog food formulated with potatoes and pulse ingredients.
Adin, Alroy, Anna K Shoveller, Arslan, Avilés-Gaxiola, Backus, Baker, Baker, Bakker, Borgarelli, Butterwick, Bélanger, Cattanach, Christopher P F Marinangeli, Columbus, Daniel A Columbus, de Godoy, Degen, Dodd, Dutton, Fascetti, Flanagan, Freeman, Freeman, Freeman, Gloaguen, Greg Aldrich, Haber, Homann, Hoppel, Hou, Hurrell, Huxtable, Ito, Jennifer A Larsen, Johnson, Johnson, Kaplan, Kari J Ekenstedt, Keene, Kim, Kim, Kittleson, Ko, Kramer, Lien, Linder, Lynn Weber, Mansilla, Marinangeli, Maron, Marshall, Martin, Mathai, Menniti, Merheb, Meurs, Meurs, Moehn, Moise, Monnet, Nardelli, Nyachoti, Owczarek-Lipska, O’Máille, Patterson, Pion, Pion, Rice, Roberfroid, Robinson, Robinson, Răşanu, Sanderson, Sarah K Abood, Schaffer, Sisson, Spitze, Stoll, Story, Swanson, Teodorowicz, Tosh, Tôrres, Werner, Wilfredo D Mansilla, Worden, Yamka, Žilić   +88 more
core   +1 more source

Twin Brothers with Carnitine Membrane Transporter Deficiency: A Case Study

Advanced Biomedical Research, 2018
Carnitine membrane transporter deficiency or primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation, in which the transport of carnitine into cells is impaired.
Elham Hashemi Dehkordi, Payam Sobhani, Nabiolah Asadpour, Mahin Hashemipour, Neda Mostofizadeh   +4 more
doaj   +1 more source

Oxidative stress: new insights on the association of nonalcoholic fatty liver disease and atherosclerosis [PDF]

, 2015
Non-alcoholic fatty liver disease (NAFLD) represents the most common and emerging chronic liver disease worldwide. It includes a wide spectrum of liver diseases ranging from simple fatty liver to non-alcoholic steatohepatitis (NASH), which may progress ...
Albanese, Fabiana, Angelico, Francesco, Baratta, Francesco, DEL BEN, Maria, Pastori, Daniele, Perri, Ludovica, Polimeni, Licia, Violi, Francesco   +7 more
core   +1 more source

The NADPH oxidase NOX4 regulates redox and metabolic homeostasis preventing HCC progression

Hepatology, EarlyView., 2022
Loss of NOX4 in HCC tumor cells induces metabolic reprogramming in a Nrf2/MYC‐dependent manner to promote HCC progression. Abstract Background and Aims The NADPH oxidase NOX4 plays a tumor‐suppressor function in HCC. Silencing NOX4 confers higher proliferative and migratory capacity to HCC cells and increases their in vivo tumorigenic potential in ...
Irene Peñuelas‐Haro, Rut Espinosa‐Sotelo, Eva Crosas‐Molist, Macarena Herranz‐Itúrbide, Daniel Caballero‐Díaz, Ania Alay, Xavier Solé, Emilio Ramos, Teresa Serrano, María L. Martínez‐Chantar, Ulla G. Knaus, José M. Cuezva, Antonio Zorzano, Esther Bertran, Isabel Fabregat   +14 more
wiley   +1 more source

Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes. [PDF]

, 2019
Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a not well-understood pathogenesis.
Czlonkowska, Anna, Kim, Kyoungmi, Litwin, Tomasz, Mazi, Tagreed A, Medici, Valentina, Sarode, Gaurav V, Shibata, Noreene M   +6 more
core   +2 more sources

RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease

Hepatology, EarlyView., 2022
RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease. Abstract Background and Aims Receptor‐interacting protein kinase 3 (RIPK3) mediates NAFLD progression, but its metabolic function is unclear. Here, we aimed to investigate the role of RIPK3 in modulating mitochondria function, coupled with lipid droplet (LD)
Marta B. Afonso, Tawhidul Islam, Julie Magusto, Ricardo Amorim, Véronique Lenoir, Rui F. Simões, José Teixeira, Liana C. Silva, Dominique Wendum, Isabelle Jéru, Corinne Vigouroux, Rui E. Castro, Paulo J. Oliveira, Carina Prip‐Buus, Vlad Ratziu, Jérémie Gautheron, Cecília M. P. Rodrigues   +16 more
wiley   +1 more source