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Neurogenetics of the Human Adenosine Receptor Genes: Genetic Structures and Involvement in Brain Diseases [PDF]
Adenosine receptors are G-protein-coupled receptors involved in a wide range of physiological and pathological phenomena in most mammalian systems. All four receptors are widely expressed in the central nervous system, where they modulate neurotransmitter release and neuronal plasticity. A large number of gene association studies have shown that common
arxiv +1 more source
Asymmetric dimerization of adenosine deaminase acting on RNA facilitates substrate recognition
Adenosine deaminases acting on RNA (ADARs) are enzymes that convert adenosine to inosine in duplex RNA, a modification that exhibits a multitude of effects on RNA structure and function.
A. Thuy-Boun+7 more
semanticscholar +1 more source
CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies
CRISPR‐Cas9 gene‐editing technology enables the rapid generation of animal models for Duchenne muscular dystrophy research and has potential to be developed as CRISPR therapy for the long lasting genetic correction of causal mutations. Abstract CRISPR gene‐editing technology creates precise and permanent modifications to DNA.
Yu C. J. Chey+4 more
wiley +1 more source
Neurodegeneration in multiple sclerosis
Chronic demyelination results in impaired axon metabolism and function, ultimately leading to progressive neurological decline. Neuroprotective strategies aim to protect axons from inflammatory‐mediated destruction, thereby improving axonal integrity and clinical disability (Image created in BioRender.com).
Gabrielle M. Mey+2 more
wiley +1 more source
Expanding a fluorescent RNA alphabet: synthesis, photophysics and utility of isothiazole-derived purine nucleoside surrogates. [PDF]
A series of emissive ribonucleoside purine mimics, all comprised of an isothiazolo[4,3-d]pyrimidine core, was prepared using a divergent pathway involving a key Thorpe-Ziegler cyclization.
Fin, Andrea+2 more
core +1 more source
Metabolic Aspects of Adenosine Functions in the Brain
Adenosine, acting both through G-protein coupled adenosine receptors and intracellularly, plays a complex role in multiple physiological and pathophysiological processes by modulating neuronal plasticity, astrocytic activity, learning and memory, motor ...
Mercedes Garcia-Gil+5 more
doaj +1 more source
In the past few years, the spectrum of monogenic systemic auto‐inflammatory diseases has widely expanded beyond the typical recurrent fever. Immuno‐haematological features, as cytopenias, hypogammaglobulinemia, hypereosinophilia, lymphoproliferation and immunodeficiency, have been described in association of several MSAID.
Hélène Vergneault+2 more
wiley +1 more source
Adenosine deaminase as marker of insulin resistance [PDF]
Background:Type-2 diabetes complications contribute to increased morbidity and mortality and hence early diagnosis and control of diabetes is necessary. Adenosine deaminase activity is present in almost all human tissues, but the highest levels are found
L. S., Adarsh+3 more
core +3 more sources
Introduction About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase.
Hellani Ali+2 more
doaj +1 more source
Adenosine Deaminase 2 Deficiency
Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, ADA2 deficiency causes abnormal, unprovoked inflammation that can damage the body's tissues and organs, particularly blood vessels. ( Inflammation
semanticscholar +1 more source