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Purine Nucleoside Phosphorylase Deficiency: A Mutation Update
Nucleosides, Nucleotides and Nucleic Acids, 2011Purine nucleoside phosphorylase (PNPase) deficiency is an autosomal recessive disorder affecting purine degradation and salvage pathways. Clinically, patients typically present with severe immunodeficiency, neurological dysfunction, and autoimmunity. Biochemically, PNPase deficiency may be suspected in the presence of hypouricemia.
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[Purine nucleoside phosphorylase (PNP)].
Nihon rinsho. Japanese journal of clinical medicine, 1997PNP, encoded by 6 exons on human chromosome 14q13, is a homotrimetic enzyme of approximately 96 k dalton. This enzyme reversibly catalyzes the phosphorolysis of purine nucleoside to their respective purine bases and the corresponding pentose-1-phosphate.
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16 Purine Nucleoside Phosphorylase
1972Publisher Summary This chapter focuses on purine nucleoside phosphorylases (PNPases), which are widely distributed in nature and have been identified and studied in a number of tissues in mammals, chickens, fish, yeast, and in several species of bacteria. In the erythrocytes of dogs, the activity of PNPase is remarkably low when compared with the red
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Chapter 3. Purine Nucleoside Phosphorylase
2007Purine nucleoside phosphorylase (PNP) catalyzes the reversible phosphorolysis of purine ribonucleosides and 2′-deoxypurine ribonucleosides to the free base, and ribose 1-phosphate or 2′-deoxyribose 1-phosphate, respectively.1–3 PNPs are found in most prokaryotic and eukaryotic organisms where the en...
Yang Zhang, Steven E. Ealick
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Purine nucleoside phosphorylase deficiency.
Immunodeficiency reviews, 1991Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disease accounting for approximately 4% of patients with severe combined immunodeficiency. Thirty-three patients have been reported. PNP-deficient patients suffer from recurrent infections, usually beginning in the first year of life. Two thirds of patients have evidence of neurologic
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Thyroid purine nucleoside phosphorylase
Biochimica et Biophysica Acta (BBA) - Enzymology, 1979Jeffrey D. Carlson, Allan G. Fischer
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[Purine nucleoside phosphorylase (PNP) deficiency].
Nihon rinsho. Japanese journal of clinical medicine, 1997The clinical manifestation, diagnosis, pathogenesis, pathophysiology and treatment of purine nucleoside phosphorylase (PNP) deficiency is overviewed. Among the severe combined immunodeficiency syndrome (SCID), PNP deficiency was 2ndly found as an autosomal recessively heritable purine metabolic disease.
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