Results 21 to 30 of about 38,743 (241)

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report

Journal of Medical Case Reports, 2022
Background Pyruvate kinase deficiency is an exceptionally rare autosomal recessive Mendelian disorder caused by bi-allelic pathogenic variants in the PKLR gene.
Atta Ur Rehman, Abdur Rashid, Zubair Hussain, Khadim Shah   +3 more
doaj   +1 more source

P1546: ACTIVATE-KIDST: MITAPIVAT IN CHILDREN WITH PYRUVATE KINASE DEFICIENCY WHO ARE REGULARLY TRANSFUSED [PDF]

HemaSphere, 2022
R. F. Grace, P. D. Tyler, M. Little, P. A. Kosinski, V. Beynon   +4 more
doaj   +2 more sources

Pyruvate Kinase M2 Protects Heart from Pressure Overload‐Induced Heart Failure by Phosphorylating RAC1

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Heart failure, caused by sustained pressure overload, remains a major public health problem. PKM (pyruvate kinase M) acts as a rate‐limiting enzyme of glycolysis. PKM2 (pyruvate kinase M2), an alternative splicing product of PKM, plays complex
Le Ni, Bowen Lin, Lingjie Hu, Ruoyu Zhang, Fengmei Fu, Meiting Shen, Jian Yang, Dan Shi   +7 more
doaj   +1 more source

A Proposed Concept for Defective Mitophagy Leading to Late Stage Ineffective Erythropoiesis in Pyruvate Kinase Deficiency

Frontiers in Physiology, 2021
Pyruvate kinase deficiency (PKD) is a rare congenital hemolytic anemia caused by mutations in the PKLR gene. Here, we review pathophysiological aspects of PKD, focusing on the interplay between pyruvate kinase (PK)-activity and reticulocyte maturation in
Annelies Johanna van Vuren, Eduard Johannes van Beers, Richard van Wijk   +2 more
doaj   +1 more source

Prenatal diagnosis of pyruvate kinase deficiency [PDF]

Blood, 1994
Prenatal testing for pyruvate kinase deficiency is often requested by parents who already have an affected child. However, before the development of molecular biologic techniques there were no suitable diagnostic methods. We present here two cases in which the diagnosis was established, one using amniotic fluid cells, the other cord blood.
L, Baronciani, E, Beutler
openaire   +3 more sources

Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase deficiency. [PDF]

PLoS ONE, 2012
Hematopoietic stem cell (HSC) gene therapy has cured immunodeficiencies including X-linked severe combined immunodeficiency (SCID-X1) and adenine deaminase deficiency (ADA). For these immunodeficiencies corrected cells have a selective advantage in vivo,
Grant D Trobridge, Brian C Beard, Robert A Wu, Christina Ironside, Punam Malik, Hans-Peter Kiem   +5 more
doaj   +1 more source

Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency

Molecular Therapy: Methods & Clinical Development, 2021
Pyruvate kinase deficiency (PKD), an autosomal-recessive disorder, is the main cause of chronic non-spherocytic hemolytic anemia. PKD is caused by mutations in the pyruvate kinase, liver and red blood cell (PKLR) gene, which encodes for the erythroid ...
Sara Fañanas-Baquero, Oscar Quintana-Bustamante, Daniel P. Dever, Omaira Alberquilla, Rebeca Sanchez-Dominguez, Joab Camarena, Isabel Ojeda-Perez, Mercedes Dessy-Rodriguez, Rolf Turk, Mollie S. Schubert, Annalisa Lattanzi, Liwen Xu, Jose L. Lopez-Lorenzo, Paola Bianchi, Juan A. Bueren, Mark A. Behlke, Matthew Porteus, Jose-Carlos Segovia   +17 more
doaj   +1 more source

Metabolic Characterization and Consequences of Mitochondrial Pyruvate Carrier Deficiency in Drosophila melanogaster

Metabolites, 2020
In insect, pyruvate is generally the predominant oxidative substrate for mitochondria. This metabolite is transported inside mitochondria via the mitochondrial pyruvate carrier (MPC), but whether and how this transporter controls mitochondrial oxidative ...
Chloé Simard, Andréa Lebel, Eric Pierre Allain, Mohamed Touaibia, Etienne Hebert-Chatelain, Nicolas Pichaud   +5 more
doaj   +1 more source

Novel mutations associated with pyruvate kinase deficiency in Brazil

Hematology, Transfusion and Cell Therapy, 2018
Background: Pyruvate kinase deficiency is a hereditary disease that affects the glycolytic pathway of the red blood cell, causing nonspherocytic hemolytic anemia.
Maria Carolina Costa Melo Svidnicki, Andrey Santos, Jhonathan Angel Araujo Fernandez, Ana Paula Hitomi Yokoyama, Isis Quezado Magalhães, Vitoria Regia Pereira Pinheiro, Silvia Regina Brandalise, Paulo Augusto Achucarro Silveira, Fernando Ferreira Costa, Sara Teresinha Olalla Saad   +9 more
doaj   +1 more source

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency [PDF]

American Journal of Hematology, 2018
AbstractPyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency.
Bianchi, Paola, Fermo, Elisa, Glader, Bertil, Kanno, Hitoshi, Agarwal, Archana, Barcellini, Wilma, Eber, Stefan, Hoyer, James D., Kuter, David J., Maia, Tabita Magalhães, Mañu‐Pereira, Maria del Mar, Kalfa, Theodosia A., Pissard, Serge, Segovia, José‐Carlos, van Beers, Eduard, Gallagher, Patrick G., Rees, David C., van Wijk, Richard   +17 more
openaire   +2 more sources