DNA-PK deficiency potentiates cGAS-mediated antiviral innate immunity [PDF]
Nature Communications, 2020 The enzyme cGAS induces innate immune responses upon recognition of cytosolic DNA. Here, using in vitro and in vivo models, the authors identify DNA-PK as a negative regulator of cGAS signalling.
Xiaona Sun +14 more
doaj +6 more sources
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia [PDF]
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 +8 more
doaj +7 more sources
DNA-PK Deficiency in Alzheimer's Disease. [PDF]
J Neurol Neuromedicine, 2016 Alzheimer's disease (AD) is characterized by neuronal death with an accumulaton of intra-cellular neurofibrillary tangles (NFT) and extracellular amyloid plaques. Reduced DNA repair ability has been reported in AD brains. In neurons, the predominant mechanism to repair double-strand DNA breaks (DSB) is non-homologous end joining (NHEJ) that requires ...
Kanungo J.
europepmc +4 more sources
Double Trouble: Combined Prekallikrein and IgA Deficiencies in a Patient Undergoing Orthotopic Heart Transplantation—A Case Report [PDF]
Case Reports in AnesthesiologyPrekallikrein (PK) and selective IgA deficiencies are rare, and their coexistence in a cardiac transplant patient presents unique challenges. These disorders affect anticoagulation monitoring and transfusion safety, necessitating tailored perioperative ...
Brittany McLay +6 more
doaj +2 more sources
Pyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK/HK Ratio. [PDF]
Int J Mol SciDiagnosis of pyruvate kinase (PK) deficiency remains challenging in clinical practice. To avoid the influence of reticulocytosis when measuring PK activity, was proposed to measure PK:hexokinase (HK) enzyme activity ratio. However, decreased PK activity and PK:HK ratio were observed in patients with other anemias, so use of this ratio in differential ...
Koleva L +9 more
europepmc +3 more sources
Pharmacokinetic Model Based Sensitivity Analysis to Lower Recruitment Burden for Young Children Requiring Intravenous Immunoglobulin G Replacement [PDF]
CPT: Pharmacometrics & Systems PharmacologyTo support a post‐marketing requirement for pharmacokinetic (PK)‐focused assessments in patients ages 2–16 years, a model‐informed drug development approach was used to overcome enrollment barriers in recruiting pediatric subjects with primary immune ...
Todd Dumas +5 more
doaj +2 more sources
Pyruvate kinase deficiency modifies sickle hemoglobin carrier and sickle cell disease phenotypes in mice [PDF]
JCI InsightGrowing evidence indicates that PKLR, the gene for pyruvate kinase (PK), is a genetic modifier of the sickle cell phenotype. Coinheritance of specific PKLR variants is associated with increased pain-related hospitalization and can trigger sickle cell ...
Xunde Wang +14 more
doaj +2 more sources
Worldwide Distribution of PK Deficiency: the Defect Seems Mainly Concentrated in West African Countries and the United States. [PDF]
Mediterr J Hematol Infect Dis, 2021 Girolami A, Ferrari S.
europepmc +3 more sources
The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design
BMJ Open, 2023 Introduction Pyruvate kinase (PK) deficiency is a rare, under-recognised, hereditary condition that leads to chronic haemolytic anaemia and potentially serious secondary complications, such as iron overload, cholecystitis, pulmonary hypertension and ...
Yan Yan +15 more
doaj +1 more source
Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I
The Turkish Journal of Pediatrics, 2022 Background. Pyruvate kinase (PK) deficiency is the most common enzyme abnormality in the glycolytic pathway. Here, we describe two siblings with PK deficiency that mimicked congenital dyserythropoietic anemia (CDA) type I. Case.
Ayça Koca Yozgat +4 more
doaj +1 more source