Regular ArticleGlucosephosphate Isomerase (GPI) Deficiency Mutations Associated with Hereditary Nonspherocytic Hemolytic Anemia (HNSHA)☆
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Cited by (42)
Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study
2016, Blood Cells, Molecules, and DiseasesCitation Excerpt :Red cell enzyme activities, expressed as IU/g Hb, were measured in hemolysates according to the methods recommended by the International Committee for Standardization in Hematology [24]. Genomic DNA was extracted from peripheral blood leukocytes using standard methods and polymerase chain reaction (PCR) to amplify GPI exons and adjacent intronic regions was performed with primers and conditions reported in Beutler et al. [25]. PCR products were purified with a ExoSap IT (Valencia, CA, USA) following the manufacturer's instructions and sequenced using the ABI Prism BigDye® Terminator V 1.1 Cycle Sequencing Kit (Applied Biosystems, Foster City, CA, USA) and the ABI 3130 genetic analyzer (Applied Biosystems).
A novel binding of GTP stabilizes the structure and modulates the activities of human phosphoglucose isomerase/autocrine motility factor
2015, Biochemistry and Biophysics ReportsCitation Excerpt :ATP is also needed for glutathione synthesis and plays a crucial role in nucleotide metabolism. Approximately thirty genetic mutations associated with this genetic disorder have been identified [16,17]; they cause either unstable proteins or proteins impaired in isomerization activity [13,18]. Without the continuous supply of PGI, due to the absence of nucleus, the red blood cells carrying the deficient versions of hPGI would have shorter lifespans, leading to haemolytic anemia.
Glucose-6-phosphate isomerase deficiency results in mTOR activation, failed translocation of lipin 1αto the nucleus and hypersensitivity to glucose: Implications for the inherited glycolytic disease
2011, Biochimica et Biophysica Acta - Molecular Basis of DiseaseCitation Excerpt :It is interesting to note that similar symptoms are associated with GPI deficiencies and lipin mutations. For instance, GPI-deficient patients can present with mental retardation and neurological impairment that affects the brain and the spinal cord [38–43,45]. Similarly, lipin 1 mutant mice present peripheral neuropathies accompanied by demyelination, mediated by PA accumulation in Schwann cells [14,15].
PI 3-kinase/Akt and STAT3 are required for the prevention of TGF-β-induced Hep3B cell apoptosis by autocrine motility factor/phosphoglucose isomerase
2010, Cancer LettersCitation Excerpt :Traditionally, autocrine motility factor/phosphoglucose isomerase (AMF/PGI) is a ubiquitous cytosolic enzyme that catalyzes the isomerization of glucose-6-phosphate (G-6-P) and fructose-6-phosphate (F-6-P) in the glycolysis and gluconeogenesis pathways [16,17]. In humans, an autosomal recessive AMF/PGI deficiency leads to non-spherocytic hemolytic anemia that has variable clinical manifestations [18–20]. Serum activity of AMF/PGI is also a hallmark tumor marker in gastrointestinal and renal cancer patients [21].
Isolation of novel animal cell lines defective in glycerolipid biosynthesis reveals mutations in glucose-6-phosphate isomerase
2010, Journal of Biological ChemistryCitation Excerpt :It is possible that structural modification of GPI in these cells may interfere with its role as an autocrine agent, and this may affect expression or function of PAP1 and cell growth. Finally, the findings presented herein may shed light on some of the symptoms associated with an inheritable defect in GPI (10, 56). Patients presenting with a GPI deficiency invariably display a non-spherocytic, hemolytic anemia.
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Reprint request to: Ernest Beutler, M.D., Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037. phone (619) 784-8040, fax (619) 784-2083, email: [email protected]