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 +16 more
wiley +1 more source
Exclusive neuronal expression of SUCLA2 in the human brain [PDF]
, 2013 SUCLA2 encodes the ATP-forming subunit (A-SUCL-) of succinyl-CoA ligase, an enzyme of the citric acid cycle. Mutations in SUCLA2 lead to a mitochondrial disorder manifesting as encephalomyopathy with dystonia, deafness and lesions in the basal ganglia ...
A Kowluru +55 more
core +2 more sources
Astrocyte glutamine synthetase : pivotal in health and disease [PDF]
, 2013 The multifunctional properties of astrocytes signify their importance in brain physiology and neurological function. In addition to defining the brain architecture, astrocytes are primary elements of brain ion, pH and neurotransmitter homoeostasis.
Parpura, Vladimir +2 more
core +1 more source
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 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 +2 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 +14 more
core +3 more sources
The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons [PDF]
, 2006 Multi-objective evolutionary algorithms (MOEAs) have become increasingly popular as multi-objective problem solving techniques. Most studies of MOEAs are empirical. Only recently, a few theoretical results have appeared.
Katja Brauburger +2 more
core +3 more sources
Understanding the Intersections between Metabolism and Cancer Biology [PDF]
, 2017 Transformed cells adapt metabolism to support tumor initiation and progression. Specific metabolic activities can participate directly in the process of transformation or support the biological processes that enable tumor growth.
DeBerardinis, Ralph J. +1 more
core +1 more source
Not So Rare: Errors of Metabolism during the Neonatal Period
, 2003 During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core +1 more source
Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source