Results 21 to 30 of about 2,622 (152)

Pyruvate kinase L/R links metabolism dysfunction to neuroendocrine differentiation of prostate cancer by ZBTB10 deficiency

Cell Death and Disease, 2022
Neuroendocrine differentiation (NED) frequently occurs in androgen-deprivation therapy (ADT)-resistant prostate cancer (PCa) and is typically associated with metabolic pathway alterations, acquisition of lineage plasticity, and malignancy.
Yu-Ching Wen, Wei-Yu Chen, Van Thi Ngoc Tram, Hsiu-Lien Yeh, Wei-Hao Chen, Kuo-Ching Jiang, Wassim Abou-Kheir, Jiaoti Huang, Michael Hsiao, Yen-Nien Liu   +9 more
doaj   +1 more source

Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis

Cells, 2022
Background: Hereditary spherocytosis (HS) and pyruvate kinase deficiency (PKD) are the most common causes of hereditary chronic hemolytic anemia. Here, we describe clinical and genetic characteristics of a Spanish family with concomitant β-spectrin (SPTB)
Joan-Lluis Vives Corrons, Elena Krishnevskaya, Laura Montllor, Valentina Leguizamon, Marta Garcia Bernal   +4 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

Malaria: looking for selection signatures in the human PKLR gene region [PDF]

British Journal of Haematology, 2010
SummaryThe genetic component of susceptibility to malaria is both complex and multigenic and the better‐known protective polymorphisms are those involving erythrocyte‐specific structural proteins and enzymes. In vivo and in vitro data have suggested that pyruvate kinase deficiency, which causes a nonspherocytic haemolytic anaemia, could be protective ...
Patrícia, Machado, Rui, Pereira, Ana Mafalda, Rocha, Licínio, Manco, Natércia, Fernandes, Juliana, Miranda, Letícia, Ribeiro, Virgílio E, do Rosário, António, Amorim, Leonor, Gusmão, Ana Paula, Arez   +10 more
openaire   +2 more sources

Genetic diagnosis of MN and ABO hemolytic disease of the newborn complicated with pyruvate kinase deficiency: a case report and literature review

Zhongguo shuxue zazhi, 2022
Objective To investigate the clinical and genetic characteristics of hemolytic disease of the newborn(HDN) induced by anti-M complicated with pyruvate kinase deficiency (PKD) disease. Methods The clinical data of a pregnant woman with unexplained adverse
Xiaoyan LI, Xiaoli LAI, Dan WANG, Lina ZHANG, Xuan ZENG   +4 more
doaj   +1 more source

Proanthocyanidin-Rich Cranberry Extract Lowers Glycemia in Established Obesity by Delaying Glucose Absorption. [PDF]

FASEB J
Schematic summary of the metabolic effects and proposed mechanisms of action of proanthocyanidin‐rich cranberry extract (PRCE) supplementation in mice with established diet‐induced obesity housed under thermoneutral (30°C) or cold‐exposed (10°C) conditions.
Beji S, Mouchiroud M, Tribouillard L, Efole B, Perazza L, Favereaux L, Poirier A, Idris W, Gélinas Y, Varin TV, Rovère C, Anhê FF, Picard F, Laplante M, Marette A, Michaud A, Caron A.   +16 more
europepmc   +2 more sources

Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I

The Turkish Journal of Pediatrics, 2022
Background. Pyruvate kinase (PK) deficiency is the most common enzyme abnormality in the glycolytic pathway. Here, we describe two siblings with PK deficiency that mimicked congenital dyserythropoietic anemia (CDA) type I. Case.
Ayça Koca Yozgat, Arzu Yazal Erdem, Dilek Kaçar, Namık Yaşar Özbek, Neşe Yaralı   +4 more
doaj   +1 more source

Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation

Frontiers in Genetics, 2023
Pyruvate Kinase Deficiency (PKD) and Crigler-Najjar syndrome are rare autosomal recessive liver diseases. PKD is caused by homozygous or compound heterozygous mutations in the PKLR gene, leading to non-spherocytic hereditary hemolytic anemia.
Huan Wu, Long Wu, Quan Zhang, Bao-fang Zhang   +3 more
doaj   +1 more source

A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report

Frontiers in Genetics, 2020
BackgroundRed cell pyruvate kinase deficiency (PKD) is a defect of glycolysis causing congenital non-spherocytic hemolytic anemia. PKD is transmitted as an autosomal recessive trait.
Karolina Maciak, Anna Adamowicz-Salach, Jaroslaw Poznanski, Monika Gora, Jan Fronk, Beata Burzynska   +5 more
doaj   +1 more source

ChREBP Regulates Itself and Metabolic Genes Implicated in Lipid Accumulation in β-Cell Line. [PDF]

PLoS ONE, 2016
Carbohydrate response element binding protein (ChREBP) is an important transcription factor that regulates a variety of glucose-responsive genes in hepatocytes. To date, only two natural isoforms, Chrebpα and Chrebpβ, have been identified.
Chanachai Sae-Lee, Kanya Moolsuwan, Lawrence Chan, Naravat Poungvarin   +3 more
doaj   +1 more source