Results 31 to 40 of about 2,622 (152)

Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population.

PLoS ONE, 2015
Pyruvate kinase (PKLR) is a critical erythrocyte enzyme that is required for glycolysis and production of ATP. We have shown that Pklr deficiency in mice reduces the severity (reduced parasitemia, increased survival) of blood stage malaria induced by ...
Rebekah van Bruggen, Christian Gualtieri, Alexandra Iliescu, Chalisa Louicharoen Cheepsunthorn, Punchalee Mungkalasut, Jean-François Trape, David Modiano, Bienvenu Sodiomon Sirima, Pratap Singhasivanon, Mark Lathrop, Anavaj Sakuntabhai, Jean-François Bureau, Philippe Gros   +12 more
doaj   +1 more source

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells

Stem Cell Reports, 2015
Pyruvate kinase deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PKLR gene. Erythrocytes from PKD patients show an energetic imbalance causing chronic non-spherocytic hemolytic anemia, as pyruvate kinase defects impair ...
Zita Garate, Oscar Quintana-Bustamante, Ana M. Crane, Emmanuel Olivier, Laurent Poirot, Roman Galetto, Penelope Kosinski, Collin Hill, Charles Kung, Xabi Agirre, Israel Orman, Laura Cerrato, Omaira Alberquilla, Fatima Rodriguez-Fornes, Noemi Fusaki, Felix Garcia-Sanchez, Tabita M. Maia, Maria L. Ribeiro, Julian Sevilla, Felipe Prosper, Shengfang Jin, Joanne Mountford, Guillermo Guenechea, Agnes Gouble, Juan A. Bueren, Brian R. Davis, Jose C. Segovia   +26 more
doaj   +1 more source

Whole genome transcript profiling of drug induced steatosis in rats reveals a gene signature predictive of outcome. [PDF]

PLoS ONE, 2014
Drug induced steatosis (DIS) is characterised by excess triglyceride accumulation in the form of lipid droplets (LD) in liver cells. To explore mechanisms underlying DIS we interrogated the publically available microarray data from the Japanese ...
Nishika Sahini, Saravanakumar Selvaraj, Jürgen Borlak   +2 more
doaj   +1 more source

Functional validation of GWAS gene candidates for abnormal liver function during zebrafish liver development

Disease Models & Mechanisms, 2013
SUMMARY Genome-wide association studies (GWAS) have revealed numerous associations between many phenotypes and gene candidates. Frequently, however, further elucidation of gene function has not been achieved.
Leah Y. Liu, Caroline S. Fox, Trista E. North, Wolfram Goessling   +3 more
doaj   +1 more source

Novel Compound Heterozygous PKLR Mutation Induced Pyruvate Kinase Deficiency With Persistent Pulmonary Hypertension in a Neonate: A Case Report

Frontiers in Cardiovascular Medicine, 2022
BackgroundPulmonary hypertension could be associated with pyruvate kinase deficiency (PKD). There are few reported cases of PPHN as the first clinical manifestation of PKD.
Sha Lin, Xintian Hua, Jinrong Li, Yifei Li   +3 more
doaj   +1 more source

Impact of sex on the adaptation of adult mice to long consumption of sweet-fat diet

Вавиловский журнал генетики и селекции, 2020
In rodents, the most adequate model of human diet-induced obesity is obesity caused by the consumption of a sweet-fat diet (SFD), which causes more pronounced adiposity in females than in males.
N. M. Bazhan, T. V. Iakovleva, A. D. Dubinina, E. N. Makarova   +3 more
doaj   +1 more source

Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia

Clinical Case Reports, 2022
We report herein a child with transfusion‐dependent chronic anemia, the cause of which was difficult to establish because of his transfusion dependency. The clinical and laboratory features suggested a chronic nonspherocytic hemolytic anemia (CNSHA) with
Naglaa Fawaz, Ismail Beshlawi, Alauldeen Alqasim, Mathew Zachariah, Roberta Russo, Immacolata Andolfo, Antonella Gambale, Anil Pathare, Achille Iolascon   +8 more
doaj   +1 more source

Preclinical studies of efficacy thresholds and tolerability of a clinically ready lentiviral vector for pyruvate kinase deficiency treatment

Molecular Therapy: Methods & Clinical Development, 2021
Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disorder caused by mutations in the PKLR gene. PKD is characterized by non-spherocytic hemolytic anemia of variable severity and may be fatal in some cases during early childhood.
Susana Navarro, Oscar Quintana-Bustamante, Rebeca Sanchez-Dominguez, Sergio Lopez-Manzaneda, Isabel Ojeda-Perez, Aida Garcia-Torralba, Omaira Alberquilla, Kenneth Law, Brian C. Beard, Antonella Bastone, Michael Rothe, Mariela Villanueva, Juan C. Ramirez, Sara Fañanas-Baquero, Virginia Nieto-Romero, Andrea Molinos-Vicente, Sonia Gutierrez, Eileen Nicoletti, María García-Bravo, Juan A. Bueren, Jonathan D. Schwartz, Jose-Carlos Segovia   +21 more
doaj   +1 more source

Gene Editing of the Human Pklr Gene in Human Hematopoietic Progenitors to Correct Pyruvate Kinase Deficiency

Blood, 2016
Abstract Pyruvate Kinase Deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PKLR gene. This gene encodes the erythroid specific Pyruvate Kinase (RPK) enzyme, implying that this defective enzyme fails to produce normal levels of ATP and consequently, erythrocytes from PKD patients show an energetic imbalance.
Oscar Quintana-Bustamante, Sara Fañanas, Israel Orman, Agnès Gouble, Roman Galetto, Laurent Poirot, Juan A. Bueren, Jose C. Segovia   +7 more
openaire   +1 more source

Glucose Injection Into Yolk Positively Modulates Intermediary Metabolism and Growth Performance in Juvenile Nile Tilapia (Oreochromis niloticus)

Frontiers in Physiology, 2020
The aim of this study was to explore for the first time in omnivorous fish the concept of nutritional programming. A nutritional stimulus was accomplished by microinjecting 2 M glucose into yolk reserves during the alevin stage in Nile tilapia ...
Suksan Kumkhong, Lucie Marandel, Elisabeth Plagnes-Juan, Vincent Veron, Surintorn Boonanuntanasarn, Stephane Panserat   +5 more
doaj   +1 more source