Genetic polymorphisms of PKLR gene and their associations with milk production traits in Chinese Holstein cows [PDF]
Frontiers in Genetics, 2022 Our previous work had confirmed that pyruvate kinase L/R (PKLR) gene was expressed differently in different lactation periods of dairy cattle, and participated in lipid metabolism through insulin, PI3K-Akt, MAPK, AMPK, mTOR, and PPAR signaling pathways ...
Aixia Du +6 more
doaj +6 more sources
Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis [PDF]
HeliyonPyruvate kinase deficiency is a rare hereditary erythrocyte enzyme disease caused by mutations in the pyruvate kinase liver and red blood cell gene. The clinical presentations of pyruvate kinase deficiency are significantly heterogeneous, ranging from ...
Yang Wang +13 more
doaj +6 more sources
Putative pathogen-selected polymorphisms in the PKLR gene are associated with mycobacterial susceptibility in Brazilian and African populations. [PDF]
PLoS Neglected Tropical Diseases, 2021 Pyruvate kinase (PK), encoded by the PKLR gene, is a key player in glycolysis controlling the integrity of erythrocytes. Due to Plasmodium selection, mutations for PK deficiency, which leads to hemolytic anemia, are associated with resistance to malaria ...
Ohanna Cavalcanti de Lima Bezerra +31 more
doaj +5 more sources
Gene editing of PKLR gene in human hematopoietic progenitors through 5' and 3' UTR modified TALEN mRNA. [PDF]
PLoS ONE, 2019 Pyruvate Kinase Deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PKLR gene, which encodes the erythroid specific Pyruvate Kinase enzyme.
Oscar Quintana-Bustamante +8 more
doaj +10 more sources
A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report [PDF]
Journal of Medical Case Reports, 2021 Background Erythrocyte pyruvate kinase is expressed under the control of the PKLR gene located on chromosome 1q21. Pyruvate kinase catalyzes the final steps of the glycolytic pathway and creates 50% of the red cell total adenosine triphosphate.
Ahalyaa Sivashangar +5 more
doaj +5 more sources
A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report [PDF]
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 +3 more
doaj +5 more sources
Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency [PDF]
Frontiers in Pediatrics, 2022 Red cell pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia and the most frequent enzyme abnormality of the glycolytic pathway. To the best of our knowledge, this is the first Korean PK deficiency study
Minsun Kim +12 more
doaj +4 more sources
From Mutation to Manifestation: Evaluation of a PKLR Gene Truncation Caused by Exon Skipping in a Schnauzer Terrier [PDF]
AnimalsA five-month-old, intact, female Miniature Schnauzer Terrier presented with persistent severe hemolytic anemia following an initial infection with Babesia gibsoni and B. vogeli. Despite treatment, severe regenerative anemia persisted, and the patient was
Tzu Yi Ma, Chih Jung Kuo, Pin Chen Liu
doaj +5 more sources
Alu element insertion inPKLRgene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients [PDF]
Human Mutation, 2018 Pyruvate kinase deficiency (PKD) is the most frequent red blood cell enzyme abnormality of the glycolytic pathway and the most common cause of hereditary nonspherocytic hemolytic anemia. Over 250 PKLR-gene mutations have been described, including missense/nonsense, splicing and regulatory mutations, small insertions, small and gross deletions, causing ...
Harry Lesmana +2 more
exaly +5 more sources
A novel mutation of PKLR gene in a Taiwanese neonate initially presented with severe hemolytic anemia [PDF]
Pediatrics and Neonatology, 2020 Jen-Yin Hou +5 more
doaj +5 more sources