Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio+7 more
wiley +1 more source
NAD+ Metabolism and the Control of Energy Homeostasis: A Balancing Act between Mitochondria and the Nucleus [PDF]
NAD+ has emerged as a vital cofactor that can rewire metabolism, activate sirtuins, and maintain mitochondrial fitness through mechanisms such as the mitochondrial unfolded protein response. This improved understanding of NAD+ metabolism revived interest
Auwerx, Johan+2 more
core +1 more source
In this study, we constructed a CR biosynthesis pathway in E. coli by introducing exogenous AGAT and GAMT. We integrated the reconstitution methionine cycle with a polyphosphate kinase‐based ATP regeneration system, achieving a CR titre of 5.27 g/L with a productivity of 0.22 g/L/h.
Yuhua Sheng+8 more
wiley +1 more source
Association of circulating levels of nicotinamide phosphoribosyltransferase (NAMPT/Visfatin) and of a frequent polymorphism in the promoter of the NAMPT gene with coronary artery disease in diabetic and non-diabetic subjects [PDF]
Background: Nicotinamide phosphoribosyltransferase (NAMPT) is the limiting enzyme in one of pathways of synthesis of Nicotinamide Adenine Dinucleotide, a redox coenzyme.
Crispim, Felipe+8 more
core +4 more sources
Harnessing nucleotide metabolism and immunity in cancer: a tumour microenvironment perspective
This review explores how changes in nucleotide metabolism affect the tumour microenvironment and immune responses in cancer. Here, we discuss the dual role of nucleotide metabolism in promoting cancer cell growth and shaping immune suppression. We highlight how therapies targeting nucleotide pathways can enhance immunotherapy efficacy, offering new ...
Hadil Suleiman+5 more
wiley +1 more source
Development and implementation of rapid metabolic engineering tools for chemical and fuel production in Geobacillus thermoglucosidasius NCIMB 11955 [PDF]
Background The thermophile Geobacillus thermoglucosidasius has considerable attraction as a chassis for the production of chemicals and fuels. It utilises a wide range of sugars and oligosaccharides typical of those derived from lignocellulose and ...
AH Förster+61 more
core +2 more sources
Diabetes, Obesity and Metabolism, Volume 27, Issue 7, Page 4034-4036, July 2025.
Yoshiyuki Hamamoto, Ryota Usui
wiley +1 more source
The identification of PD‐L1 localization may be a key factor in the resistance to immunotherapy observed in patients. The discovery that PD‐L1 over expression is regulated by both transcriptional and post‐transcriptional processes. The acetyl‐proteomic analysis that identified SIRT1 as a key player in the deacetylation of histone H3 at lysines 27 and ...
Xinyi Lu+19 more
wiley +1 more source
Studies of the Binding of Phosphoribosyl Pyrophosphate to Adenine Phosphoribosyltransferase
Abstract The groups on magnesium phosphoribosyl pyrophosphate and on adenine phosphoribosyltransferase which are involved in their binding were investigated by comparing the inhibition constant of magnesium phosphoribosyl pyrophosphate with those of its analogues, by determining the effect of pH on the Michaelis constant of this substrate, and by ...
R.E.A. Gadd, J F Henderson
openaire +3 more sources
NAMPT delivered by metastatic HCC cells‐derived sEV upregulates SLC27A4 expression via TLR4/NF‐кB dependent pathway. SLC27A4 acts as an acyl‐CoA synthetase and increases the level of intracellular TG, leading to DHAP‐mediated transition between lipogenesis and glycolysis.
Cherlie Lot Sum Yeung+16 more
wiley +1 more source