Results 11 to 20 of about 13,382 (149)

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

open access: yesHepatology, 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

Mitochondrial Dysfunction in Propionic Acidemia: A Case‐Report and Review of the Literature [PDF]

open access: yesJIMD Rep
ABSTRACT Propionic acidemia is an inborn error of metabolism involving an enzymatic defect of propionyl‐CoA carboxylase that results in the build‐up of toxic metabolites which can induce metabolic decompensation. Secondary mitochondrial dysfunction in propionic acidemia has been commonly recognized; however, its clinical presentation and management are
Walther B   +5 more
europepmc   +2 more sources

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

open access: yes, 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]

open access: yes, 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

Inborn errors of metabolism: a clinical overview [PDF]

open access: yes, 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

Ataxia in children: early recognition and clinical evaluation [PDF]

open access: yes, 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

Not So Rare: Errors of Metabolism during the Neonatal Period

open access: yes, 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

Inhibition of the mitochondrial pyruvate carrier protects from excitotoxic neuronal death. [PDF]

open access: yes, 2017
Glutamate is the dominant excitatory neurotransmitter in the brain, but under conditions of metabolic stress it can accumulate to excitotoxic levels.
Andreyev, Alexander Y   +12 more
core   +1 more source

Understanding the Intersections between Metabolism and Cancer Biology [PDF]

open access: yes, 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

Impaired biotin status in anticonvulsant therapy [PDF]

open access: yes, 1982
In 264 epileptics undergoing long-term therapy with anticonvulsants, significantly reduced plasma biotin levels were found compared with a normal control group: 74% of the epileptics had biotin levels for those treated with sodium valproate were higher ...
Bonjour   +7 more
core   +1 more source

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