| PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants. | PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.
Maciak K, Jurkiewicz A, Strojny W, Adamowicz-Salach A, Romiszewska M, Jackowska T, Kwiecinska K, Poznanski J, Gora M, Burzynska B. | 06/12/2024 |
| Targeting PKLR/MYCN/ROMO1 signaling suppresses neuroendocrine differentiation of castration-resistant prostate cancer. | Targeting PKLR/MYCN/ROMO1 signaling suppresses neuroendocrine differentiation of castration-resistant prostate cancer.
Chen WY, Thuy Dung PV, Yeh HL, Chen WH, Jiang KC, Li HR, Chen ZQ, Hsiao M, Huang J, Wen YC, Liu YN., Free PMC Article | 05/28/2023 |
| Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population. | Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
Dongerdiye R, Bokde M, More TA, Saptarshi A, Devendra R, Chiddarwar A, Warang P, Kedar P. | 04/19/2023 |
| FLI1 accelerates leukemogenesis through transcriptional regulation of pyruvate kinase-L/R and other glycolytic genes. | FLI1 accelerates leukemogenesis through transcriptional regulation of pyruvate kinase-L/R and other glycolytic genes.
Sheng D, Chen B, Wang C, Xiao X, Hu A, Liu W, Kuang Y, Sample KM, Zacksenhaus E, Gajendran B, Pan W, Ben-David Y. | 01/11/2023 |
| Haematological profile of malaria patients with G6PD and PKLR variants (erythrocytic enzymopathies): a cross-sectional study in Thailand. | Haematological profile of malaria patients with G6PD and PKLR variants (erythrocytic enzymopathies): a cross-sectional study in Thailand.
Mungkalasut P, Kiatamornrak P, Jugnam-Ang W, Krudsood S, Cheepsunthorn P, Cheepsunthorn CL., Free PMC Article | 09/3/2022 |
| Genetic variants of PKLR are associated with acute pain in sickle cell disease. | Genetic variants of PKLR are associated with acute pain in sickle cell disease.
Wang X, Gardner K, Tegegn MB, Dalgard CL, Alba C, Menzel S, Patel H, Pirooznia M, Fu YP, Seifuddin FT, Thein SL., Free PMC Article | 06/18/2022 |
| Pyruvate kinase L/R links metabolism dysfunction to neuroendocrine differentiation of prostate cancer by ZBTB10 deficiency. | Pyruvate kinase L/R links metabolism dysfunction to neuroendocrine differentiation of prostate cancer by ZBTB10 deficiency.
Wen YC, Chen WY, Tram VTN, Yeh HL, Chen WH, Jiang KC, Abou-Kheir W, Huang J, Hsiao M, Liu YN., Free PMC Article | 04/16/2022 |
| A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report. | A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report.
Rehman AU, Rashid A, Hussain Z, Shah K., Free PMC Article | 02/19/2022 |
| Rheostat functional outcomes occur when substitutions are introduced at nonconserved positions that diverge with speciation. | Rheostat functional outcomes occur when substitutions are introduced at nonconserved positions that diverge with speciation.
Swint-Kruse L, Martin TA, Page BM, Wu T, Gerhart PM, Dougherty LL, Tang Q, Parente DJ, Mosier BR, Bantis LE, Fenton AW., Free PMC Article | 02/5/2022 |
| Liver Pyruvate Kinase Promotes NAFLD/NASH in Both Mice and Humans in a Sex-Specific Manner. | Liver Pyruvate Kinase Promotes NAFLD/NASH in Both Mice and Humans in a Sex-Specific Manner.
Chella Krishnan K, Floyd RR, Sabir S, Jayasekera DW, Leon-Mimila PV, Jones AE, Cortez AA, Shravah V, Péterfy M, Stiles L, Canizales-Quinteros S, Divakaruni AS, Huertas-Vazquez A, Lusis AJ., Free PMC Article | 12/25/2021 |
| Putative pathogen-selected polymorphisms in the PKLR gene are associated with mycobacterial susceptibility in Brazilian and African populations. | Putative pathogen-selected polymorphisms in the PKLR gene are associated with mycobacterial susceptibility in Brazilian and African populations.
Bezerra OCL, Alvarado-Arnez LE, Mabunda N, Salomé G, de Sousa A, Kehdy FSG, Sales-Marques C, Manta FSN, Andrade RM, Ferreira LP, Leal-Calvo T, Cardoso CC, Nunes K, Gouveia MH, Mbulaiteve SM, Yeboah ED, Hsing A, Latini ACP, Leturiondo AL, Rodrigues FDC, Noronha AB, Ferreira CO, Talhari C, Rêgo JL, Castellucci LCC, Tarazona-Santos E, Carvalho EF, Meyer D, Pinheiro RO, Jani IV, Pacheco AG, Moraes MO., Free PMC Article | 11/22/2021 |
| The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency. | The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.
Al-Samkari H, Addonizio K, Glader B, Morton DH, Chonat S, Thompson AA, Kuo KHM, Ravindranath Y, Wang H, Rothman JA, Kwiatkowski JL, Kung C, Kosinski PA, Al-Sayegh H, London WB, Grace RF. | 08/7/2021 |
| Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients. | Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.
Milanesio B, Pepe C, Defelipe LA, Eandi Eberle S, Avalos Gomez V, Chaves A, Albero A, Aguirre F, Fernandez D, Aizpurua L, Paula Dieuzeide M, Turjanski A, Bianchi P, Fermo E, Feliu-Torres A. | 07/10/2021 |
| Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn. | Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn.
Canu G, De Paolis E, Righino B, Mazzuccato G, De Paolis G, Capoluongo E, De Rosa MC, Urbani A, Gunes AM, Minucci A. | 05/22/2021 |
| Identification of biochemically neutral positions in liver pyruvate kinase. | Identification of biochemically neutral positions in liver pyruvate kinase.
Martin TA, Wu T, Tang Q, Dougherty LL, Parente DJ, Swint-Kruse L, Fenton AW., Free PMC Article | 02/6/2021 |
| HNF-1a promotes pancreatic cancer growth and apoptosis resistance via its target gene PKLR. | HNF-1a promotes pancreatic cancer growth and apoptosis resistance via its target gene PKLR.
Fan Z, Fan K, Deng S, Gong Y, Qian Y, Huang Q, Yang C, Cheng H, Jin K, Luo G, Liu C, Yu X. | 12/19/2020 |
| Novel PLKR mutations in four families with pyruvate kinase deficiency. | Novel PLKR mutations in four families with pyruvate kinase deficiency.
Qin L, Nie Y, Chen L, Zhang D, Lin Y, Ru K. | 12/12/2020 |
| our study is the first to reveal that circFOXP1 was upregulated in GBC and promoted the tumor progression in GBC cells by interacting with PTBP1 or sponging miR-370 targeting PKLR | Circular RNA FOXP1 promotes tumor progression and Warburg effect in gallbladder cancer by regulating PKLR expression.
Wang S, Zhang Y, Cai Q, Ma M, Jin LY, Weng M, Zhou D, Tang Z, Wang JD, Quan Z., Free PMC Article | 04/18/2020 |
| A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency. | A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency.
Aydin Köker S, Oymak Y, Bianchi P, Gözmen S, Karapinar TH, Fermo E, Vergin RC. | 05/18/2019 |
| A novel PKLR gene mutation was identified in members of a Chinese family with hemolytic anemia. | A novel PKLR gene mutation identified using advanced molecular techniques.
He Y, Luo J, Lei Y, Jia S, Liao N. | 09/8/2018 |
| Results show that different residues contribute to the two allosteric functions: regulation by the activator fructose-1,6-bisphosphate (Fru-1,6-BP) and alanine, the inhibitor. Only a small fraction of mutated residues perturbed inhibition by alanine. In contrast, a large percentage of mutated residues influenced activation by Fru-1,6-BP; inhibition by alanine is not simply the reverse of activation by Fru-1,6-BP. | Whole-protein alanine-scanning mutagenesis of allostery: A large percentage of a protein can contribute to mechanism.
Tang Q, Fenton AW., Free PMC Article | 02/3/2018 |
| PKLR gene sequencing in 15 Spanish patients affected by pyruvate kinase deficiency (PKD) was performed. Six out of the 18 alleles found were new mutations which had not been described previously, with the PKLR c.721G>T mutation being the most prevalent (26.67%), followed by the PKLR c.1456C>T mutation (13.33%). | Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.
Montllor L, Mañú-Pereira MD, Llaudet-Planas E, Gómez Ramírez P, Sevilla Navarro J, Vives-Corrons JL. | 12/16/2017 |
| Gene copy number variation (CNV) of the PKLR, FCGR2A, FCGR2C, and FCGR3 genes is associated with malaria severity, and our results provide evidence for a role of CNV in host responses to malaria. | Pyruvate Kinase and Fcγ Receptor Gene Copy Numbers Associated With Malaria Phenotypes.
Faik I, van Tong H, Lell B, Meyer CG, Kremsner PG, Velavan TP. | 09/9/2017 |
| Genotype-phenotype correlations for the novel missense mutations found in the PKLR gene in PK deficiency among Tunisian cases were investigated by three-dimensional structure analysis. | Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.
Jaouani M, Manco L, Kalai M, Chaouch L, Douzi K, Silva A, Macedo S, Darragi I, Boudriga I, Chaouachi D, Fitouri Z, Van Wijk R, Ribeiro ML, Abbes S. | 03/25/2017 |
| Data show that pyruvate kinase (PK) activity was decreased in the GATA1 hemizygous state and PKLR c.1284delA variant. | Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.
Pereira J, Bento C, Manco L, Gonzalez A, Vagace J, Ribeiro ML. | 02/4/2017 |