{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:27:20Z","timestamp":1777868840220,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Enzyme"],"abstract":"<jats:p>Glucose-6-phosphate dehydrogenase (G6PD) deficiency was found in erythrocytes,\nlymphocytes and muscle of an Italian male, whose family has lived for at least three\ngenerations in Lodi (Lombardy, northern Italy). The subject was hospitalized for myalgia\nand dark urine after intense physical exercise, but no sign of anemia and chronic hemolysis\nwere present at rest. Family studies revealed that the mother and the maternal aunt had the\nsame enzymopathy. The enzyme-specific activity in red blood cells was 15 % of control and\nthe kinetic properties were the following: slower electrophoretic mobility; biphasic pH activity\ncurve; slightly reduced thermal stability, and increased utilization of the substrate analogs.\nThe analysis of our patient\u2019s DNA showed a G=&gt;C mutation at nucleotide 844 which\ncauses an Asp=&gt;His amino acid change in position 282. This is the same mutation found by\nDe Vita et al. in the G6PD Seattle-like variant. However, by following a new convention, we\nlabelled our variant as G6PD Lodi^844C. As far as the muscle is concerned, we found that the\nenzyme-specific activity in this tissue was 14% of control values, but cultured myotubes and\nmyoblasts revealed a normal level of G6PD as well as skin fibroblasts. On the contrary in the\nsame type of cultured cells obtained from G6PD Mediterranean subjects, the G6PD activity\nwas about 20% of normal. Our results complete the characterization of this mutant enzyme,\ndemonstrate the expression of the deficit in muscle and describe the enzyme behaviour in\ncultured cells.<\/jats:p>","DOI":"10.1159\/000468887","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:21:51Z","timestamp":1502472111000},"page":"180-187","source":"Crossref","is-referenced-by-count":20,"title":["Glucose-6-Phosphate Dehydrogenase Lodi^844C:\nA Study on Its Expression in Blood Cells and Muscle"],"prefix":"10.1159","author":[{"given":"Paolino","family":"Ninfali","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nereo","family":"Bresolin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciano","family":"Baronciani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Fortunato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo","family":"Comi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Magnani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guglielmo","family":"Scarlato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,8,11]]},"container-title":["Enzyme"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000468887","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:45:59Z","timestamp":1777553159000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000468887"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000468887","archive":["Portico"],"relation":{},"ISSN":["0013-9432","2504-2564"],"issn-type":[{"value":"0013-9432","type":"print"},{"value":"2504-2564","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,11]]}}}