Results 41 to 50 of about 2,622 (152)

Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides

Frontiers in Genome Editing, 2023
Pyruvate kinase deficiency (PKD) is an autosomal recessive disorder caused by mutations in the PKLR gene. PKD-erythroid cells suffer from an energy imbalance caused by a reduction of erythroid pyruvate kinase (RPK) enzyme activity. PKD is associated with
Sara Fañanas-Baquero, Sara Fañanas-Baquero, Matías Morín, Sergio Fernández, Isabel Ojeda-Perez, Isabel Ojeda-Perez, Mercedes Dessy-Rodriguez, Mercedes Dessy-Rodriguez, Miruna Giurgiu, Miruna Giurgiu, Juan A. Bueren, Juan A. Bueren, Miguel Angel Moreno-Pelayo, Jose Carlos Segovia, Jose Carlos Segovia, Oscar Quintana-Bustamante, Oscar Quintana-Bustamante   +16 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

Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats

BMC Veterinary Research, 2012
Background Erythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic anemia that has been documented in the Abyssinian and Somali breeds as well as random bred domestic shorthair cats.
Grahn Robert A, Grahn Jennifer C, Penedo Maria CT, Helps Chris R, Lyons Leslie A   +4 more
doaj   +1 more source

The variable manifestations of disease in pyruvate kinase deficiency and their management

Haematologica, 2020
Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia and results in a broad spectrum of disease.
Hanny Al-Samkari, Eduard J. van Beers, Kevin H.M. Kuo, Wilma Barcellini, Paola Bianchi, Andreas Glenthøj, María del Mar Mañú Pereira, Richard van Wijk, Bertil Glader, Rachael F. Grace   +9 more
doaj   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

Transcriptomic and metabolomic analyses reveal that lobeglitazone ameliorates hepatic steatosis in rats concurrent with regulation of mitochondrial pyruvate metabolism

British Journal of Pharmacology, EarlyView.
Background and Purpose Lobeglitazone is a thiazolidinedione and PPARγ agonist that improves metabolic parameters and hepatic steatosis, but its mechanisms are not fully understood. This study investigated the effects of lobeglitazone on hepatic transcriptomic and metabolic profiles in a rat model of obesity and Type 2 diabetes mellitus.
Hyekyung Yang, Su Young Son, Youngmi Song, Hyewon Choi, In‐Gu Do, Choong Hwan Lee, Cheol‐Young Park   +6 more
wiley   +1 more source

Combined Analysis of Expression Profiles in a Mouse Model and Patients Identified BHMT2 as a New Regulator of Lipid Metabolism in Metabolic-Associated Fatty Liver Disease

Frontiers in Cell and Developmental Biology, 2021
Metabolic associated fatty liver disease (MAFLD) is associated with obesity, type 2 diabetes mellitus, and other metabolic syndromes. Farnesoid X receptor (FXR, NR1H4) plays a prominent role in hepatic lipid metabolism. This study combined the expression
Yongqiang Ma, Yongqiang Ma, Zhi Tan, Qiang Li, Qiang Li, Wenling Fan, Guangshun Chen, Guangshun Chen, Yangyang Bin, Yi Zhou, Junfang Yi, Xiaohua Luo, Jieqiong Tan, Zhongzhou Si, Zhongzhou Si, Jiequn Li, Jiequn Li   +16 more
doaj   +1 more source

Ovarian hormone loss modifies the nucleic acid cargo of circulating extracellular vesicles and skeletal muscle metabolism after acute exercise in rats

Experimental Physiology, EarlyView.
Abstract Loss of ovarian hormones (i.e., menopause) leads to negative effects on metabolic health. While exercise offers significant benefits, it seems to be insufficient to completely reverse these changes. The mechanisms by which exercise conveys the effects throughout the body are still poorly understood.
Veera Puumalainen, Anni Maja, Tia‐Marje Korhonen, Tuuli A. Nissinen, Eero Hulkko, Janne A. Ihalainen, Maarit Lehti, Sira Karvinen   +7 more
wiley   +1 more source

Circulating Mitochondrial DNA Measures Across Malignancies: Diagnostic Accuracy and Prognostic Associations

Cancer Medicine, Volume 15, Issue 8, August 2026.
ABSTRACT Background Circulating mitochondrial DNA is being investigated as a liquid‐biopsy biomarker because of its high copy number and release during cellular stress. However, diagnostic estimates vary across tumor types and assays, and prognostic studies have measured both cell‐free mtDNA and cellular blood‐derived mtDNA, which are not analytically ...
Ziying Zhang, Ying Jiang, Yu Gong, Hui Xie, Yaqian Han, Peng Chen   +5 more
wiley   +1 more source