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PubMed Journals Articles About "Adenosine Kinase Deficiency Report Review" RSS

13:29 EDT 18th March 2019 | BioPortfolio

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Showing "Adenosine Kinase Deficiency Report Review" PubMed Articles 1–25 of 32,000+

Adenosine Kinase Deficiency: Report and Review.

Adenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-like symptoms, respiratory difficulties, and neonatal jaundice. Subsequently, patients demonstrate hypotonia and global developmental delay. Biochemically, methionine is elevated with normal homoc...


The role of adenosine in epilepsy.

Adenosine is a well-characterized endogenous anticonvulsant and seizure terminator of the brain. Through a combination of adenosine receptor-dependent and -independent mechanisms, adenosine affects seizure generation (ictogenesis), as well as the development of epilepsy and its progression (epileptogenesis). Maladaptive changes in adenosine metabolism, in particular increased expression of the astroglial enzyme adenosine kinase (ADK), play a major role in epileptogenesis. Increased expression of ADK has dua...

Adenosine kinase and cardiovascular fetal programming in gestational diabetes mellitus.

Gestational diabetes mellitus (GDM) is a detrimental condition for human pregnancy associated with endothelial dysfunction and endothelial inflammation in the fetoplacental vasculature and leads to increased cardio-metabolic risk in the offspring. In the fetoplacental vasculature, GDM is associated with altered adenosine metabolism. Adenosine is an important vasoactive molecule and is an intermediary and final product of transmethylation reactions in the cell. Adenosine kinase is the major regulator of aden...


Adenosine signaling and adenosine deaminase regulation of immune responses: impact on the immunopathogenesis of HIV infection.

Infection by human immunodeficiency virus (HIV) causes the acquired immune deficiency syndrome (AIDS), which has devastating effects on the host immune system. HIV entry into host cells and subsequent viral replication induce a proinflammatory response, hyperactivating immune cells and leading them to death, disfunction, and exhaustion. Adenosine is an immunomodulatory molecule that suppresses immune cell function to protect tissue integrity. The anti-inflammatory properties of adenosine modulate the chron...

HL156A, a novel pharmacological agent with potent adenosine-monophosphate-activated protein kinase (AMPK) activator activity ameliorates renal fibrosis in a rat unilateral ureteral obstruction model.

Renal fibrosis is characterized by excessive production and deposition of extracellular matrix (ECM), which leads to progressive renal failure. Adenosine-monophosphate-activated protein kinase (AMPK) is a highly conserved kinase that plays a key role in Smad-3 signaling. Here, we examined the effect of a novel AMPK activator, HL156A, on the inhibition of renal fibrosis in in vivo and in vitro models.

Prophylaxis of peripartum haemorrhage using recombinant factor VIIa (rfVIIa) in pregnant women with congenital factor VII deficiency: A case report and literature review.

Congenital factor VII deficiency is a rare autosomal recessive disorder associated to different haemorrhagic manifestations. Labour and delivery may cause bleeding risk in patients with this coagulation deficit, thus it is appropriate to clarify whether prophylaxis of peripartum haemorrhage is necessary. To date, there are very few cases in scientific literature which report the management of women with congenital factor VII deficiency during labour, and a consensus for prophylaxis does not exist. In this m...

Flipping ATP to AMPlify Kinase Functions.

Understanding protein kinase family members that lack key catalytic residues-or pseudokinases-is a major challenge in cell signaling. In this issue of Cell, Sreelatha et al. (2018) describe how one pseudokinase transfers adenosine monophosphate (AMP) rather than phosphate to protein substrates, revealing unexpected catalytic diversity for the kinase fold.

Adenosine receptors as a new target for resveratrol-mediated glioprotection.

Resveratrol, a natural polyphenolic compound, has been studied as a neuroprotective molecule. Our group has demonstrated that such effect is closely associated with modulation of glial functionality, but the underlying mechanisms are not fully understood. Because astrocytes actively participate in the brain inflammatory response, and activation of adenosine receptors can attenuate inflammatory processes, the aim of this study was to investigate the role of adenosine receptors as a mechanism for resveratrol ...

Physiology and effects of nucleosides in mice lacking all four adenosine receptors.

Adenosine is a constituent of many molecules of life; increased free extracellular adenosine indicates cell damage or metabolic stress. The importance of adenosine signaling in basal physiology, as opposed to adaptive responses to danger/damage situations, is unclear. We generated mice lacking all four adenosine receptors (ARs), Adora1-/-;Adora2a-/-;Adora2b-/-;Adora3-/- (quad knockout [QKO]), to enable investigation of the AR dependence of physiologic processes, focusing on body temperature. The QKO mice de...

Adenosine and lipids: A forced marriage or a love match?

Adenosine is a fascinating compound, crucial in many biochemical processes: this ubiquitous nucleoside serves as an essential building block of RNA, is also a component of ATP and regulates numerous pathophysiological mechanisms via binding to four extracellular receptors. Due to its hydrophilic nature, it belongs to a different world than lipids, and has no affinity for them. Since the 1970's, however, new discoveries have emerged and prompted the scientific community to associate adenosine with the lipid ...

The Structure of HPK1 Kinase Domain: To Boldly Go Where No Immuno-Oncology Drugs Have Gone Before.

In this issue of Structure, Wu et al. (2018) report several apo and small-molecule inhibitor-bound structures of the kinase domain of hematopoietic progenitor kinase 1, a ser/thr kinase that functions as an inhibitor of T cell activation. The studies reveal that the HPK1 kinase domain exists as a domain-swapped dimer.

Glioma progression in diabesity.

Diabetes mellitus, obesity, and cancer are diseases that in recent years have caused a large number of deaths worldwide, so have been in the front line of biomedical research. On the other hand, obesity is a risk factor for several types of cancer and type 2 diabetes mellitus. The metabolic disorder and global inflammatory environment seen in obese patients is also critical for the treatment of both diabetes mellitus and gliomas. Several molecules are increased in patients with obesity and are considered ri...

Novel CECR1 gene mutations causing deficiency of adenosine deaminase 2, mimicking antiphospholipid syndrome.

Dietary restrictions for people with glucose-6-phosphate dehydrogenase deficiency.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in the world and renders those affected susceptible to potentially severe oxidative hemolysis. Although the resulting hemolysis is most often associated with drug exposure, it has also been reported after consumption of certain foods. With the exception of review articles that reiterated the historical knowledge that fava beans can provoke severe oxidative hemolysis in individuals with G6PD deficiency, very few articles...

A new perspective on perioperative coagulation management in a patient with congenital factor VII deficiency: A case report.

Congenital factor VII (FVII) deficiency is a rare coagulopathy. There are little clinical data for congenital FVII deficiency and no evidence-based medicine guidelines for treatment.

The Effect of Adenosine on Extracellular Matrix Production in Porcine Intervertebral Disc Cells.

Compressive loading promotes adenosine triphosphate (ATP) production and release by intervertebral disc (IVD) cells. Extracellular ATP can be rapidly hydrolyzed by ectonucleotidases. Adenosine, one of the adenine derivatives of ATP hydrolysis, can modulate diverse cellular actions via adenosine receptors. The objectives of this study were to investigate the effects of exogenous adenosine on the production of extracellular matrix (ECM; i.e., collagen type II and aggrecan) and ATP of IVD cells and explore the...

DYRK1A and cognition: A lifelong relationship.

The dosage of the serine threonine kinase DYRK1A is critical in the central nervous system (CNS) during development and aging. This review analyzes the functions of this kinase by considering its interacting partners and pathways. The role of DYRK1A in controlling the differentiation of prenatal newly formed neurons is presented separately from its role at the pre- and post-synaptic levels in the adult CNS; its effects on synaptic plasticity are also discussed. Because this kinase is positioned at the cross...

Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency: A case report and literature review.

Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency (LCAT) is a rare automosal recessive disease. Acquired LCAT deficiency due to inhibitory autoantibodies against LCAT are also described. This disease is induced by systemic deposits related to a lipid metabolism disorder and lead to multi-organ involvement including renal involvement. Lipid profile usually shows variable cholesterol levels but very low HDL levels. Here we describe the case of a 33-year-old man presenting a nephro...

Involvement of A adenosine receptors as anti-inflammatory in gestational diabesity.

Pregnant women that are obese may develop gestational diabetes mellitus (GDM) configuring a new metabolic condition referred to as gestational diabesity. The metabolic alterations seen in gestational diabesity include a combination of an exacerbated pro-inflammatory state and fetoplacental endothelial dysfunction. Also, gestational diabesity associates with supra-physiological extracellular concentration of adenosine in the foetoplacental blood. Since adenosine plays a central role in the inflammatory respo...

Adenosine A receptor blocks the A receptor inhibition of renal Na transport and oxygen consumption.

A high renal oxygen (O ) need is primarily associated with the renal tubular O consumption (VO ) necessary for a high rate of sodium (Na ) transport. Limited O availability leads to increased levels of adenosine, which regulates the kidney via activation of both A and A adenosine receptors (A1R and A2AR, respectively). The relative contributions of A1R and A2AR to the regulation of renal Na transport and VO have not been determined. We demonstrated that A1R activation has a dose-dependent biphasic effect on...

Nontraumatic Compartment Syndrome in a Patient with Protein S Deficiency: A Case Report.

Protein S deficiency, a hypercoagulable thrombophilia, often results in venous thromboembolism. Nontraumatic compartment syndrome in a patient with protein S deficiency has not been well publicized. Herein, we present a rare case of nontraumatic compartment syndrome of the hand and the thigh in a 48-year-old woman with a known history of protein S deficiency; emergency fasciotomies were needed.

The effect of ghrelin and adenosine mono phosphate kinase (AMPK) on the passive avoidance memory in male wistar rats.

Simultaneous determination of allantoin and adenosine in human urine using liquid chromatography - UV detection.

We report a HPLC-UV method for the quantitative determination of allantoin and adenosine in human urine, validated according to the acceptance criteria of both the USA Food and Drug Administration (FDA) guideline for bioanalytical method validation and the European Medicines Agency (EMA) validation guidelines. Both allantoins and adenosine are compounds of the purine catabolic pathway. Adenosine is situated at the top as a uric acid (UA) precursor, while allantoin is the best-known degradation product of UA...

A misleading case of deficiency of adenosine deaminase 2 (DADA2): the magnifying glass of the scientific knowledge drives the tailored medicine in real life.

A Novel Mutation of Glucose Phosphate Isomerase (GPI) Causing Severe Neonatal Anemia Due to GPI Deficiency.

Glucose-6-phosphate isomerase (GPI) deficiency is very rare, but one of the most common erythroenzymopathies, causing hereditary nonspherocytic hemolytic anemia. This case report describes the clinical features and the molecular etiology of a Dutch patient with GPI deficiency. She is the fifth patient with GPI deficiency identified to date in the Netherlands and was found to be compound heterozygous for the previously reported c.1615G>A p.(Asp539Asn) mutation and a novel c.271A>T p.(Asn91Tyr) variant.


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