Results 11 to 20 of about 47,808 (160)

Oral health in two heterozygote female twins with congenital lactic acidosis [PDF]

open access: yes, 2017
Introduction: Congenital lactic acidosis (CLA) is a rare disease caused by mutations in Mithocondrial DNA (mtDNA), which affects the ability of cells to use energy that causes accumulation of lactic acid in the body.
GUERRA, Fabrizio   +4 more
core   +1 more source

Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]

open access: yes, 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

Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults. [PDF]

open access: yes, 2019
Thiamine (vitamin B1) is an essential nutrient that serves as a cofactor for a number of enzymes, mostly with mitochondrial localization. Some thiamine-dependent enzymes are involved in energy metabolism and biosynthesis of nucleic acids whereas others ...
Adams   +154 more
core   +2 more sources

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency [PDF]

open access: yes, 2015
Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being linked to ...
Angela eHagendorff   +26 more
core   +3 more sources

Using in silico models to simulate dual perturbation experiments: procedure development and interpretation of outcomes. [PDF]

open access: yes, 2009
BackgroundA growing number of realistic in silico models of metabolic functions are being formulated and can serve as 'dry lab' platforms to prototype and simulate experiments before they are performed.
Jamshidi, Neema, Palsson, Bernhard O
core   +3 more sources

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes

open access: yesJournal of Inherited Metabolic Disease, 2017
ObjectivesOur aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related outcomes in patients with pyruvate dehydrogenase complex deficiency, the metabolic factors implicated in treatment outcomes, and ...
K. Sofou   +5 more
semanticscholar   +1 more source

Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function

open access: yesbioRxiv, 2022
Pyruvate dehydrogenase complex (PDC) deficiency is a major cause of primary lactic acidemia resulting in high morbidity and mortality, with limited therapeutic options.
Hatice Gokcan, J. Bedoyan, O. Isayev
semanticscholar   +1 more source

Role of Esrrg in the Fibrate-Mediated Regulation of Lipid Metabolism Genes in Human ApoA-I Transgenic Mice [PDF]

open access: yes, 2009
We have used a new ApoA-I transgenic mouse model to identify by global gene expression profiling, candidate genes that affect lipid and lipoprotein metabolism in response to fenofibrate treatment.
A Chroni   +79 more
core   +3 more sources

Inositols in Insulin Signaling and Glucose Metabolism [PDF]

open access: yes, 2018
In the past decades, both the importance of inositol for human health and the complex interaction between glucose and inositol have been the subject of increasing consideration. Glucose has been shown to interfere with cellular transmembrane transport of
Bevilacqua, Arturo, Bizzarri, Mariano
core   +1 more source

BCKDH: the missing link in apicomplexan mitochondrial metabolism is required for full virulence of Toxoplasma gondii and Plasmodium berghei [PDF]

open access: yes, 2014
While the apicomplexan parasites Plasmodium falciparum and Toxoplasma gondii are thought to primarily depend on glycolysis for ATP synthesis, recent studies have shown that they can fully catabolize glucose in a canonical TCA cycle.
Barrett, Michael P.   +11 more
core   +1 more source

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