… by an increased mass of red blood cells (RBCs), reflected by elevated … first identified this
variant by whole-genome sequencing in a 27-year-old man and his mother. Similar to our cases…

… BPGM mutations, leading to 2,3-BPG deficiency, result in a left shift of the oxygen affinity …
The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes…

… Rabbit, pig, and human erythrocytes exhibit substantially … ,3DPG by the diphosphoglycerate
mutase reaction (Figure 21.1… deficiency inhibits glycolysis above the diphosphoglycerate …

… of whole exome (WES) and whole genome sequencing (WGS) enabled a more systematic
diagnosis of clinical cases of BPGM deficiency (… be tested in human erythrocytes infected with …

… in human RBCs infected ex vivo with P. falciparum showed that homozygosity or heterozygosity
for PKLR deficiency … cytosis, with elevated circulating RBCs and total Hb, and increased …

… Hemolyzates prepared from packed human red cells with 30 µM total calcium … 2,3-DPG
in red cell is its contribution in the oxygen transportation to the tissues. The deficiency of 2,3-DPG …

… We argue that deficiency of 2,3 BPG in RBCs’ will favor a deprotonated histidine 143
which … After nucleofection for 48h, I will extract total RNA and protein using TRIzol reagent. …

… divided into enzyme deficiency according to the pathways involved in RBC metabolism, such
… dehydrogenase, monophosphoglycerate mutase, and enolase deficiencies have also been …

… signaling and production of red cells. Then the process is … bisphosphoglycerate mutase
(BPGM). Mutations in the BPGM gene lead to an abnormal functioning of BPGM and deficiency …

… known enzymatic deficiency of human erythrocytes, this and … , DHAP, and 2,3-DPG.The
latter alteration shifts the oxygen … , J., Diphosphoglycerate mutase and 2,3-diphosphoglycerate …