{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T07:25:39Z","timestamp":1769239539174,"version":"3.49.0"},"reference-count":43,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,10,13]],"date-time":"2011-10-13T00:00:00Z","timestamp":1318464000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cell Biochemistry &amp;amp; Function"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:p>In an attempt to investigate whether the genetic defect in the HEXA and HEXB genes (which causes the absence of the lysosomal <jats:italic>\u03b2\u2010N<\/jats:italic>\u2010acetyl\u2010hexosaminidase), are related to the wide inflammation in GM2 gangliosidoses (Tay\u2010Sachs and Sandhoff disease), we have chosen the dendritic cells (DCs) as a study model. Using the RNA interference approach, we generated an <jats:italic>in vitro<\/jats:italic> model of HEXs <jats:italic>knock\u2010down<\/jats:italic> immunogenic DCs (i\u2010DCs) from CD34<jats:sup>+<\/jats:sup>\u2010haemopoietic stem cells (CD34<jats:sup>+<\/jats:sup>\u2010HSCs), thus mimicking the Tay\u2010Sachs (HEXA\u2212\/\u2212) and Sandhoff (HEXB\u2212\/\u2212) cells.<\/jats:p><jats:p>We showed that the absence of <jats:italic>\u03b2\u2010N<\/jats:italic>\u2010acetyl\u2010hexosaminidase activity does not alter the differentiation of i\u2010DCs from HSCs, but it is critical for the activation of CD4<jats:sup>+<\/jats:sup>T cells because knock\u2010down of <jats:italic>HEXA<\/jats:italic> or <jats:italic>HEXB<\/jats:italic> gene causes a loss of function of i\u2010DCs. Notably, the silencing of the <jats:italic>HEXA<\/jats:italic> gene had a stronger immune inhibitory effect, thereby indicating a major involvement of <jats:italic>\u03b2\u2010N<\/jats:italic>\u2010acetyl\u2010hexosaminidase A isoenzyme within this mechanism. Copyright \u00a9 2011 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/cbf.1819","type":"journal-article","created":{"date-parts":[[2011,10,13]],"date-time":"2011-10-13T09:36:04Z","timestamp":1318498564000},"page":"61-68","source":"Crossref","is-referenced-by-count":8,"title":["Knock\u2010down of HEXA and HEXB genes correlate with the absence of the immunostimulatory function of HSC\u2010derived dendritic cells"],"prefix":"10.1002","volume":"30","author":[{"given":"Roberto","family":"Tiribuzi","sequence":"first","affiliation":[{"name":"Department of Experimental Medicine and Biochemical Sciences University of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"D'Angelo","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine and Biochemical Sciences University of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna C.","family":"Berardi","sequence":"additional","affiliation":[{"name":"Department of Transfusion Medicine Santo Spirito Hospital  Pescara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabata","family":"Martino","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine and Biochemical Sciences University of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aldo","family":"Orlacchio","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine and Biochemical Sciences University of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,10,13]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"3827","volume-title":"The Metabolic and Molecular Basis of Inherited Disease","author":"Gravel RA","year":"2001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2006.05.027"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22262"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010010\u20109186\u20103"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2011.27"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M106164200"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi216"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2009.05919.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.20.10954"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.11.1343"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1103440"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0611139104"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20062342"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1001008"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R110.134452"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.18.1.767"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.173.4.2353"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuint.2006.04.004"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000258712"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1108003"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1080106"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2011.02.001"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-03-0885"},{"key":"e_1_2_7_25_1","first-page":"59","article-title":"Non\u2010redundant roles of cathepsins L, B and S in CD1a+ dendritic cells knocked\u2010down for cathepsin S by RNA interference","volume":"20","author":"Tiribuzi R","year":"2008","journal-title":"Minerva Biotecnologica"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1155\/2009\/410260"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2009.05919.x"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2008.115873"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9120(00)00049-7"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(94)00179-2"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(76)90527-3"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"e_1_2_7_33_1","first-page":"628","article-title":"Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff\u2010Jatzkewitz disease)","volume":"27","author":"Beutler E","year":"1975","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2006.04.004"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-7844-0_27"},{"key":"e_1_2_7_36_1","article-title":"Linking Inflammation to Natural Killer T Cell Activation","volume":"1000226","author":"Salio M","year":"2009","journal-title":"PLoS Biol"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg089"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00309622"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1006\/nbdi.2002.0511"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-170"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.1.1"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00059-004-2626-9"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2567.2009.03225.x"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.3233\/JAD\u20102011\u2010100525"}],"container-title":["Cell Biochemistry and Function"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fcbf.1819","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/analyticalsciencejournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cbf.1819","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T00:39:01Z","timestamp":1760056741000},"score":1,"resource":{"primary":{"URL":"https:\/\/analyticalsciencejournals.onlinelibrary.wiley.com\/doi\/10.1002\/cbf.1819"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10,13]]},"references-count":43,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["10.1002\/cbf.1819"],"URL":"https:\/\/doi.org\/10.1002\/cbf.1819","archive":["Portico"],"relation":{},"ISSN":["0263-6484","1099-0844"],"issn-type":[{"value":"0263-6484","type":"print"},{"value":"1099-0844","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,10,13]]}}}