Adenosine deaminase
... their mechanism of action is inhibition of adenosine deaminase. Adenosine deaminase deficiency GRCh38: Ensembl release 89: ... Adenosine deaminase (also known as adenosine aminohydrolase, or ADA) is an enzyme (EC 3.5.4.4) involved in purine metabolism. ... Adenosine deaminase deficiency leads to pulmonary fibrosis, suggesting that chronic exposure to high levels of adenosine can ... Blackburn MR (2003). "Too much of a good thing: adenosine overload in adenosine-deaminase-deficient mice". Trends in ...
Adenosine-phosphate deaminase
... adenine nucleotide deaminase, and adenosine (phosphate) deaminase. The EC number for adenosine-phosphate deaminase is [EC 3.5. ... indicates that adenosine-phosphate deaminase binds to 5'-adenosine monophosphate. The pathway for adenosine-phosphate deaminase ... all of them deaminate adenosine, 2'-deoxyadenosine, 5'-AMP, and 3',5'-cyclic AMP. Inhibitors of adenosine-phosphate deaminase ... Adenosine-phosphate deaminase binds to 5'-AMP using water to break the C-N bond and replacing it with a carbonyl group. ...
Adenosine deaminase deficiency
The enzyme adenosine deaminase is encoded by the ADA gene on chromosome 20. ADA deficiency is inherited in an autosomal ... "Adenosine Deaminase (ADA) Deficiency". Archived from the original on 2008-02-12. Retrieved 2008-02-28. p347, The Immune System ... Adenosine deaminase deficiency (ADA deficiency) is a metabolic disorder that causes immunodeficiency. It is caused by mutations ... Adenosine deaminase deficiency - Genetics Home Reference (Articles with short description, Short description is different from ...
Adenosine deaminase 2 deficiency
The protein product of this gene, adenosine deaminase 2 (ADA2), is an extracellular enzyme that breaks down adenosine and may ... Carmona-Rivera C (2019). "Deficiency of adenosine deaminase triggers adenosine-mediated NETosis and TNF production in patients ... "The extracellular adenosine deaminase growth factor, ADGF/CECR1, plays a role in Xenopus embryogenesis via the adenosine/P1 ... Aksentijevich I (1993). "Adenosine Deaminase 2 Deficiency". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Mirzaa G, ...
Adenosine deaminase z-alpha domain
Double-stranded RNA-specific adenosine deaminase (EC) converts multiple adenosines to inosines and creates I/U mismatched base ... This family consists of the N-terminus and thus the z-alpha domain of double-stranded RNA-specific adenosine deaminase (ADAR), ... In molecular biology, the protein domain Adenosine deaminase z-alpha domain refers to an evolutionary conserved protein domain ... DRADA has been found to modify adenosines in AU-rich regions more frequently, probably due to the relative ease of melting A/U ...
Adenosine monophosphate deaminase deficiency type 1
Adenosine mediates pain through adenosine receptors. MADD causes an increase of free adenosine during heavy activity which may ... Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently ... AMP deaminase is an enzyme that converts adenosine monophosphate (AMP) to inosine monophosphate (IMP), freeing an ammonia ... In the brain, excess adenosine decreases alertness and causes sleepiness. In this way, adenosine may play a role in fatigue ...
Nucleic acid metabolism
The nucleoside, adenosine, is then deaminated and hydrolyzed to form hypoxanthine via adenosine deaminase and nucleosidase ... "Adenosine deaminase (ADA) deficiency". Learn.Genetics. Archived from the original on 3 November 2014. Retrieved 31 October 2014 ... and adenosine deaminase deficiency, which causes immunodeficiency. Once the nucleotides are synthesized they can exchange ... Guanine is then deaminated via guanine deaminase to form xanthine which is then converted to uric acid. Oxygen is the final ...
List of OMIM disorder codes
APC Adenosine deaminase deficiency, partial; 102700; ADA Adenosine triphosphate, elevated, of erythrocytes; 102900; PKLR ...
Enzyme replacement therapy
When the enzyme adenosine deaminase is deficient in the body, the result is a toxic build-up of metabolites that impair ... ERT has also been used to treat patients with severe combined immunodeficiency (SCID) resulting from an adenosine deaminase ... Many ADA deficient children with SCID have been treated with the polyethylene glycol-conjugated adenosine deaminase (PEG-ADA) ... ERT has also been successful in treating severe combined immunodeficiency caused by an adenosine deaminase deficiency (ADA-SCID ...
Usama al-Khalidi
"A sensitive radiochemical assay for adenosine deaminase". Clinical Immunology and Immunopathology. 5 (2): 173-176. doi:10.1016/ ...
ATP deaminase
This enzyme is also called adenosine triphosphate deaminase. Chung ST, Aida K (January 1967). "Purification and properties of ... In enzymology, an ATP deaminase (EC 3.5.4.18) is an enzyme that catalyzes the chemical reaction ATP + H2O ⇌ {\displaystyle \ ... ATP deaminase from Microsporum audouini". J. Biochem. Tokyo. 61 (1): 1-9. PMID 6048966. Portal: Biology v t e (EC 3.5.4, ...
AMP deaminase
... 1 is an enzyme that in humans is encoded by the AMPD1 gene. Adenosine monophosphate deaminase is an enzyme that ... Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in ... Sims B, Powers RE, Sabina RL, Theibert AB (1999). "Elevated adenosine monophosphate deaminase activity in Alzheimer's disease ... Dale GL (1989). "Radioisotopic assay for erythrocyte adenosine 5'-monophosphate deaminase". Clin. Chim. Acta. 182 (1): 1-7. doi ...
ADAR
"Entrez Gene: ADAR Adenosine Deaminase Acting on RNA". Kim U, Wang Y, Sanford T, Zeng Y, Nishikura K (November 1994). "Molecular ... ADAR stands for adenosine deaminase acting on RNA. This article focuses on the ADAR proteins; This article details the ... Samuel CE (2012). Adenosine deaminases acting on RNA (ADARs) and A-to-I editing. Heidelberg: Springer. ISBN 978-3-642-22800-1 ... October 2014). "Adenosine deaminase acting on RNA 1 limits RIG-I RNA detection and suppresses IFN production responding to ...
Maria Grazia Roncarolo
"Gene therapy for immunodeficiency due to adenosine deaminase deficiency". The New England Journal of Medicine. 360 (5): 447-458 ... such as Wiskott-Aldrich Syndrome She led the first stem cell-based gene therapy trial for patients with adenosine deaminase- ...
Adenosine
When adenosine enters the circulation, it is broken down by adenosine deaminase, which is present in red blood cells and the ... Adenosine deaminase deficiency is a known cause of immunodeficiency. The adenosine analog NITD008 has been reported to directly ... Adenosine is believed to be an anti-inflammatory agent at the A2A receptor. Topical treatment of adenosine to foot wounds in ... Adenosine used as a second messenger can be the result of de novo purine biosynthesis via adenosine monophosphate (AMP), though ...
Strimvelis
"Strimvelis for treating adenosine deaminase deficiency-severe combined immunodeficiency". NICE. 7 February 2018. Aiuti A, ... in the gene needed to make an enzyme called adenosine deaminase (ADA). As a result, people lack the ADA enzyme. Because ADA is ... is a medication used to treat severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). ADA-SCID is a ... recommended marketing approval for its use in children with adenosine deaminase deficiency, for whom no matched HSC donor is ...
Shimon Slavin
Jan 2009). "Gene therapy for immunodeficiency due to adenosine deaminase deficiency". N Engl J Med. 360 (5): 447-458. doi: ... pioneered the first successful use of gene therapy for the treatment of bubble baby born with adenosine deaminase deficiency in ... "Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency". J Allergy ...
CECR1
This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth ... Zavialov AV, Engström A (2006). "Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity". ... Charlab R, Valenzuela JG, Andersen J, Ribeiro JM (2001). "The invertebrate growth factor/CECR1 subfamily of adenosine deaminase ... factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye ...
Vidarabine
The use of an inhibitor of adenosine deaminase to increase the half-life of vidarabine has also been tried, and drugs such as ... It is prone to deamination by adenosine deaminase to inosine. This metabolite still possesses antiviral activity, but is 10- ... As you can see from figure 1.1 that it is a stereoisomer of adenosine. It has a half-life of 60 minutes, and its solubility is ... This is where ara-ATP is incorporated into the DNA strand replacing many of the adenosine bases. This results in the prevention ...
Vasculitis
These include adenosine deaminase 2 deficiency and haploinsufficiency of A20. According to the size of the vessel affected, ... Meyts, Isabelle; Aksentijevich, Ivona (July 2018). "Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, ...
Gene therapy
Four-year-old Ashanti DeSilva received treatment for a genetic defect that left her with adenosine deaminase deficiency (ADA- ... The allele that codes for adenosine deaminase (ADA) was obtained and inserted into a retrovirus. Retroviruses and stem cells ... This treats children born with adenosine deaminase deficiency and who have no functioning immune system. This was the second ... Ferrua F, Brigida I, Aiuti A (December 2010). "Update on gene therapy for adenosine deaminase-deficient severe combined ...
Lentiviral vector in gene therapy
"Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency". The New England Journal of Medicine. 384 (21): ...
Severe combined immunodeficiency
... and used a retrovirus to insert a healthy adenosine deaminase (ADA) gene into them. These cells were then injected back into ... in which the patient is injected with polyethyleneglycol-coupled adenosine deaminase (PEG-ADA), which metabolizes the toxic ... "Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency". New England Journal of Medicine. 384 (21): 2002 ...
Deoxyadenosine triphosphate
Patients with adenosine deaminase deficiency (ADA) tend to have elevated intracellular dATP concentrations because adenosine ... Adenosine triphosphate (ATP) Adenosine deaminase deficiency (ADA) Dilated cardiomyopathy (DCM) Romaniuk PJ, Eckstein F (July ... Cowan MJ, Wara DW, Ammann AJ (October 1985). "Deoxycytidine therapy in two patients with adenosine deaminase deficiency and ... deaminase normally curbs adenosine levels by converting it into inosine. Deficiency of this deaminase also causes ...
ADARB2
RNA-editing deaminase-2 (RED2, or ADARB2) is a member of the double-stranded RNA (dsRNA) adenosine deaminase family of RNA- ... "Entrez Gene: ADARB2 adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)". Hong HQ, Lin JS, Chen L (Feb 2015). "Regulatory ... Chen CX, Cho DS, Wang Q, Lai F, Carter KC, Nishikura K (May 2000). "A third member of the RNA-specific adenosine deaminase gene ... Valenzuela A, Blanco J, Callebaut C, Jacotot E, Lluis C, Hovanessian AG, Franco R (Apr 1997). "Adenosine deaminase binding to ...
Discovery and development of nucleoside and nucleotide reverse-transcriptase inhibitors
It is deaminated intracellularly by adenosine deaminase to dioxolane guanine (DXG). DXG-triphosphate, the active form of the ... Tenofovir is an acyclic adenosine derivative. The acyclic nature of the compound and its phosphonate moiety are unique ... First it is monophosphorylated by adenosine phosphotransferase and then the monophosphate is converted to carbovir 3´- ... In 1964 dideoxyadenosine, the corresponding adenosine analogue of zalcitabine was synthesised. Dideoxyadenosine caused kidney ...
ADARB1
Adenosine deaminase (ADA), an enzyme acting on isolated adenosine GRCh38: Ensembl release 89: ENSG00000197381 - Ensembl, May ... "Entrez Gene: ADARB1 adenosine deaminase, RNA-specific, B1 (RED1 homolog rat)". Macbeth MR, Schubert HL, Vandemark AP, Lingam AT ... Yang JH, Sklar P, Axel R, Maniatis T (April 1997). "Purification and characterization of a human RNA adenosine deaminase for ... Valenzuela A, Blanco J, Callebaut C, Jacotot E, Lluis C, Hovanessian AG, Franco R (April 1997). "Adenosine deaminase binding to ...
ADP deaminase
Other names in common use include adenosine diphosphate deaminase, and adenosinepyrophosphate deaminase. Deutsch A, Nilsson R ( ... In enzymology, an ADP deaminase (EC 3.5.4.7) is an enzyme that catalyzes the chemical reaction ADP + H2O ⇌ {\displaystyle \ ... 1954). "On the dephosphorylation and deamination of adenosine triphosphate by actomyosin gel". Acta Chem. Scand. 8: 1898-1906. ...
Purine metabolism
... then adenosine deaminase creates inosine Alternatively, AMP deaminase creates inosinic acid, then a nucleotidase creates ... Some of the diseases are: Severe immunodeficiency by loss of adenosine deaminase. Hyperuricemia and Lesch-Nyhan syndrome by the ... and fifth step are catalyzed by trifunctional purine biosynthetic protein adenosine-3, which is encoded by the GART gene. Both ... catalyzes the oxidation of xanthine to uric acid A nuclease frees the nucleotide A nucleotidase creates adenosine, ...
OSER1
... and within a million base pairs of the adenosine deaminase locus. It was also found to have an increase in expression in cells ... "Adenosine deaminase: characterization and expression of a gene with a remarkable promoter". EMBO J. 4 (2): 437-43. doi:10.1002/ ...