Article
Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation.
Blood cells, molecules & diseases - 15 Mar 2011
Ramírez-Bajo María José, Repiso Ada, la Ossa Pablo Pérez de, Bañón-Maneus Elisenda, de Atauri Pedro, Climent Fernando, Corrons Joan-Lluís Vives, Cascante Marta, Carreras José
Abstract excerpt
Recently, we reported a new mutation of phosphoglycerate kinase (PGK), called PGK-Barcelona, which causes chronic hemolytic anemia associated with progressive neurological impairment. We found a 140T→A substitution that produces an Ile46Asn change located at the N-domain of the enzyme and we suggested that the decrease of the PGK activity is probably related to a loss of enzyme stability. In this paper, by...
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