{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:27:56Z","timestamp":1777868876805,"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>A lymphoid cell line established by Epstein-Barr virus (EBV)-transformation of\nperipheral blood B-lymphocytes from a patient with Sandhoff disease showed a severe deficiency\nof \u00df-N-acetylhexosaminidase activity (residual activity around 10% of that in lymphoid\ncell lines from normals or other lipidotic patients). This residual \u00df-N-acetylhexosaminidase\nwas completely heat-labile in contrast to that of normals.\nThe molecular forms of residual \u00df-N-acetylhexosaminidase from Sandhofflymphoid cell\nline were separated by Con A-sepharose and electrofocusing. Their properties and electrofocusing\nprofiles were compared to those from Sandhoff fibroblasts and from fetal brain: this\ncomparison permitted to identify the residual molecular forms with Hex S and Hex C. The\nmicroheterogeneity of Hex S and Hex C, demonstrated by electrofocusing, was discussed.\n2-Acetamido-2-deoxy-D-galactonolactone (GalNAcLone) showed a strong inhibitory effect\non lysosomal Hex A, B and S, but only a very slight effect on Hex C. Studies of the\ninhibition type (competitive on Hex A, B and S and mixed on Hex C) gave some informations\nabout the enzymatic site. Elsewhere, differences in affinity of GalNAcLone for the various\nisoenzymes could be utilized to define optimal assay conditions for specifically determining\nHex C (standard assay containing 400 \u03bcmol\/l of GalNAcLone).\nThese results demonstrated that EBV-transformed lymphoid cell lines represent an accurate\nmodel system for enzymatic studies of Sandhoff disease.<\/jats:p>","DOI":"10.1159\/000469360","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:22:43Z","timestamp":1502472163000},"page":"48-56","source":"Crossref","is-referenced-by-count":5,"title":["Validity of Lymphoid Cell Line for\nEnzymatic Studies of GM2-Gangliosidosis Variant 0\n(Sandhoff Disease)"],"prefix":"10.1159","author":[{"given":"Arlette","family":"Maret","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Salvayre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Radon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mich\u00e8le","family":"Vuillaume","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilbert","family":"Lenoir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louis","family":"Douste-Blazy","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\/000469360","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:48:26Z","timestamp":1777553306000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000469360"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000469360","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]]}}}