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We now demonstrate that phospholipid metabolism is altered in both cultured neurons and in brain tissue from a mouse model of Sandhoff disease, the <jats:italic>Hexb\u2013\/\u2013<\/jats:italic> mouse. Metabolic labelling using [methyl\u2010<jats:sup>14<\/jats:sup>C]choline and <jats:sc>l<\/jats:sc>\u2010[3\u2010<jats:sup>3<\/jats:sup>H]serine demonstrated reduced incorporation of [methyl\u2010<jats:sup>14<\/jats:sup>C]choline into phospholipids in brain tissue but not in liver or spleen. Phospholipid mass was also reduced in brain. The activities of CTP\u2003:\u2003phosphocholine cytidylyltransferase (CCT) and phosphatidylserine synthase were also reduced in brain tissue from <jats:italic>Hexb\u2013\/\u2013<\/jats:italic> mice, probably because of post\u2010translational modification as no changes were observed in levels of enzyme expression. The relevance of these findings to Sandhoff disease in human patients is strengthened by observations made over 30\u2003years ago on autopsy tissue of Tay Sachs and Sandhoff disease patients, in which reduced phospholipid levels were observed. We suggest that changes in phospholipid metabolism are not simply because of loss of neuronal tissue as a result of degeneration but rather may cause degeneration, and we discuss the possible effects that changes in phospholipid metabolism could play in the neuropathophysiology of Sandhoff disease.<\/jats:p>","DOI":"10.1111\/j.1471-4159.2004.02457.x","type":"journal-article","created":{"date-parts":[[2004,6,15]],"date-time":"2004-06-15T20:02:27Z","timestamp":1087329747000},"page":"80-88","source":"Crossref","is-referenced-by-count":32,"title":["Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease"],"prefix":"10.1111","volume":"90","author":[{"given":"Rosaria","family":"Buccoliero","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Bodennec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerhild","family":"Van Echten\u2010Deckert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konrad","family":"Sandhoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony H.","family":"Futerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,5,6]]},"reference":[{"key":"e_1_2_21_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4547(19980315)51:6<667::AID-JNR1>3.0.CO;2-9"},{"key":"e_1_2_21_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)70226-3"},{"key":"e_1_2_21_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(00)12902-7"},{"key":"e_1_2_21_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)33465-9"},{"key":"e_1_2_21_6_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.02-0149fje"},{"key":"e_1_2_21_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(76)90527-3"},{"key":"e_1_2_21_8_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1020207613196"},{"key":"e_1_2_21_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1980.tb07077.x"},{"key":"e_1_2_21_10_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.128.5.913"},{"key":"e_1_2_21_11_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1020200806352"},{"key":"e_1_2_21_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)64849-5"},{"key":"e_1_2_21_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(96)80025-7"},{"key":"e_1_2_21_14_1","doi-asserted-by":"crossref","first-page":"339","DOI":"10.7551\/mitpress\/4913.003.0020","volume-title":"Culturing Nerve Cells","author":"Goslin K.","year":"1998"},{"key":"e_1_2_21_15_1","first-page":"3827","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Gravel R. 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