CAD is a 1.5 MDa particle formed by hexameric association of a 250 kDa protein divided
into different enzymatic domains, each catalyzing one of the initial reactions for de novo …

Uridine metabolism is extensively reported to be involved in combating oxidative stress.
Redox-imbalance-mediated ferroptosis plays a pivotal role in sepsis-induced acute lung …

The congenital dyserythropoieitic anemias: genetics and path... : Current Opinion in
Hematology The congenital dyserythropoieitic anemias: genetics and pathophysiology : Current …

CAD is a large, 2225 amino acid multienzymatic protein required for de novo pyrimidine
biosynthesis. Pathological CAD variants cause a developmental and epileptic …

Background Developmental and epileptic encephalopathy-50 (DEE-50) is a rare clinical
condition believed to be caused by a mutation in the CAD gene and is associated with a …

Developmental and epileptic encephalopathy type 50 is an autosomal recessive disorder
caused by pathogenic variants in CAD. This gene encodes a multifunctional enzyme …

CAD, the multi-enzymatic protein essential for initiating the de novo biosynthesis of
pyrimidine nucleotides, forms large hexamers whose structure and function are not fully …

Hereditary dyserythropoietic anemias, or congenital dyserythropoietic anemias (CDAs), are
rare disorders disrupting normal erythroid lineage development, resulting in ineffective …

Biallelic pathogenic variants in CAD, that encode the multienzymatic protein required for de‐
novo pyrimidine biosynthesis, cause early infantile epileptic encephalopathy‐50. This rare …

Abstract Introduction CAD (MIM* 114010) encodes a large multifunctional protein with the
enzymatic activity of the first three enzymes initiating and controlling the de novo pyrimidine …