Results 131 to 140 of about 2,622 (152)

A Novel and a Previously Described Compound HeterozygousPKLRGene Mutations Causing Pyruvate Kinase Deficiency in a Chinese Child

Fetal and Pediatric Pathology, 2014
Pyruvate kinase deficiency (PKD) is one of the most common enzymatic defects in humans and it is an autosomal recessive disorder causing chronic nonspherocytic hemolytic anemia.A two-year-old male baby with severe hemolytic anemia and low level of pyruvate kinase (PK) activity was enrolled in this study.
Huimin, Li, Ping, Gu, Ru-en, Yao, Jian, Wang, Qihua, Fu, Jing, Wang   +5 more
openaire   +2 more sources

Analysis of an alternatively spliced variant of mouse Pklr gene encoding a novel isoform with distinct N-terminal

Biochemical and Biophysical Research Communications
Pyruvate kinase catalyzes the conversion of phosphoenolpyruvate and ADP to pyruvate and ATP in glycolysis and plays a role in regulating cell metabolism. Mammalian pyruvate kinase functions as a tetrameric protein composed of identical subunits, which adopt a dimer-of-dimers configuration.
Supriya Tanwar, Akshat Rathi, Faizan Abul Qais, Insha Sultan, Faizan Ahmad, Sayeed ur Rehman   +5 more
openaire   +2 more sources

A previously unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice.

Neonatology, 2015
We report a neonate with early and severe hemolytic jaundice and low erythrocyte pyruvate kinase enzymatic activity (
Hassan M, Yaish, Roberto H, Nussenzveig, Archana M, Agarwal, Abdul H, Siddiqui, Robert D, Christensen   +4 more
openaire   +1 more source

Structure and linkage relationships of the region containing the human L-type pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.

Hematopathology and molecular hematology, 1998
Both the L-type pyruvate kinase gene (PKLR) and glucocerebrosidase (GBA) gene are on band q21 of chromosome 1 in humans. Two overlapping P1 bacteriophage clones containing PKLR and GBA were identified and mapped, defining the locations of these two genes as well as those of the GBA pseudogene (psi GBA) metaxin (MTX), the MTX pseudogene (psi MTX), and ...
A, Demina, E, Boas, E, Beutler
openaire   +1 more source

Discovery of therapeutic agents targeting PKLR for NAFLD using drug repositioning

EBioMedicine, 2022
Adil Mardinoğlu, Xiangyu Li
exaly  

[Novel PKLR gene mutation related erythropyruvate kinase deficiency: a case report].

Zhonghua nei ke za zhi, 2021
M, Hui, M, Chen
openaire   +1 more source

Targeting PKLR/MYCN/ROMO1 signaling suppresses neuroendocrine differentiation of castration-resistant prostate cancer

Redox Biology, 2023
Yen-Nien Liu, Kuo Ching Jiang
exaly  

[Erythropyruvate kinase deficiency caused by a new mutation of PKLR gene: a case report].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi, 2021
Y, Wang, Z H, Zhang, C L, Hao
openaire   +1 more source

Case report: Identification of a rare homozygous missense variant in the PKLR gene reported for the first time in transfusion-dependent Saudi Patient

Journal of Contemporary Medical Sciences, 2023
exaly  

A novel PKLR gene mutation identified using advanced molecular techniques

Pediatric Transplantation, 2018
Ning Liao
exaly