{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,24]],"date-time":"2024-08-24T10:06:12Z","timestamp":1724493972150},"reference-count":42,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2004,3,1]],"date-time":"2004-03-01T00:00:00Z","timestamp":1078099200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurobiology of Disease"],"published-print":{"date-parts":[[2004,3]]},"DOI":"10.1016\/j.nbd.2003.11.013","type":"journal-article","created":{"date-parts":[[2004,2,5]],"date-time":"2004-02-05T10:35:33Z","timestamp":1075977333000},"page":"380-386","source":"Crossref","is-referenced-by-count":15,"title":["Fibroblasts from FAD-linked presenilin 1 mutations display a normal unfolded protein response but overproduce A\u03b242 in response to tunicamycin"],"prefix":"10.1016","volume":"15","author":[{"given":"Alessandra","family":"Piccini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Fassio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Pasqualetto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Vitali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Borghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Palmieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedetta","family":"Nacmias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandro","family":"Sorbi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Sitia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Tabaton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nbd.2003.11.013_BIB1","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1212\/01.WNL.0000040252.43269.83","article-title":"Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation","volume":"60","author":"Assini","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2003.11.013_BIB2","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1006\/bbrc.2000.3838","article-title":"Aspects of gene regulation during the UPR in human cells","volume":"278","author":"Benedetti","year":"2000","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.nbd.2003.11.013_BIB3","doi-asserted-by":"crossref","first-page":"4493","DOI":"10.1093\/emboj\/19.17.4493","article-title":"The CXXCXXC motif determines the folding, structure and stability of human ERO1-L\u03b1","volume":"19","author":"Benham","year":"2000","journal-title":"EMBO J."},{"key":"10.1016\/j.nbd.2003.11.013_BIB4","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1016\/S0896-6273(00)80230-5","article-title":"Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42\/1-40 ratio in vitro and in vivo","volume":"17","author":"Borchelt","year":"1996","journal-title":"Neuron"},{"key":"10.1016\/j.nbd.2003.11.013_BIB5","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1038\/356260a0","article-title":"Role of ATP and disulphide bonds during protein folding in the endoplasmic reticulum","volume":"356","author":"Braakman","year":"1992","journal-title":"Nature"},{"key":"10.1016\/j.nbd.2003.11.013_BIB6","doi-asserted-by":"crossref","first-page":"2092","DOI":"10.1073\/pnas.90.5.2092","article-title":"Generation of beta-amyloid in the secretory pathway in neuronal and nonneuronal cells","volume":"90","author":"Busciglio","year":"1993","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.nbd.2003.11.013_BIB7","doi-asserted-by":"crossref","first-page":"3446","DOI":"10.1074\/jbc.M209065200","article-title":"Presenilin-1 regulates intracellular trafficking and cell surface delivery of beta APP","volume":"278","author":"Cai","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.nbd.2003.11.013_BIB8","doi-asserted-by":"crossref","first-page":"2373","DOI":"10.1093\/hmg\/4.12.2373","article-title":"Mutations of the presenilin 1 gene in families with early-onset Alzheimer's disease","volume":"4","author":"Campion","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2003.11.013_BIB9","doi-asserted-by":"crossref","first-page":"9223","DOI":"10.1073\/pnas.93.17.9223","article-title":"Expression and analysis of presenilin 1 in a human neuronal system: localization in cell bodies and dendrites","volume":"93","author":"Cook","year":"1996","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.nbd.2003.11.013_BIB10","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/34910","article-title":"Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein","volume":"391","author":"De Strooper","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.nbd.2003.11.013_BIB11","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1038\/19083","article-title":"A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain","volume":"398","author":"De Strooper","year":"1999","journal-title":"Nature"},{"key":"10.1016\/j.nbd.2003.11.013_BIB12","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1038\/383710a0","article-title":"Increased amyloid-beta 42(43) in brains of mice expressing mutant presenilin 1","volume":"383","author":"Duff","year":"1996","journal-title":"Nature"},{"key":"10.1016\/j.nbd.2003.11.013_BIB13","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1016\/S0197-4580(02)00076-3","article-title":"Protein misfolding in Alzheimer's and Parkinson disease: genetics and molecular mechanisms","volume":"23","author":"Forloni","year":"2002","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.nbd.2003.11.013_BIB14","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1042\/bj3480307","article-title":"Cholesterol decreases secretion of the secreted form of amyloid precursor protein by interfering with glycosylation in the protein secretory pathway","volume":"348","author":"Galbete","year":"2000","journal-title":"Biochem. J."},{"key":"10.1016\/j.nbd.2003.11.013_BIB15","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1073\/pnas.96.2.742","article-title":"Endoplasmic reticulum and trans-Golgi network generate distinct populations of Alzheimer beta-amyloid peptides","volume":"96","author":"Greenfield","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.nbd.2003.11.013_BIB16","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1146\/annurev.cellbio.18.011402.160624","article-title":"Transcriptional and translational control in the mammalian unfolded protein response","volume":"18","author":"Harding","year":"2002","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"10.1016\/j.nbd.2003.11.013_BIB17","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/S0092-8674(01)00407-X","article-title":"An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin","volume":"105","author":"Imai","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.nbd.2003.11.013_BIB18","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1038\/70265","article-title":"Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response","volume":"1","author":"Katayama","year":"1999","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.nbd.2003.11.013_BIB19","doi-asserted-by":"crossref","first-page":"43446","DOI":"10.1074\/jbc.M104096200","article-title":"Disturbed activation of endoplasmic reticulum stress transducers by familial Alzheimer's disease-linked presenilin-1 mutations","volume":"276","author":"Katayama","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.nbd.2003.11.013_BIB20","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1101\/gad.13.10.1211","article-title":"Stress signaling from the lumen of the endoplasmic reticulum: coordination of gene transcriptional and translational controls","volume":"313","author":"Kaufman","year":"1999","journal-title":"Genes Dev."},{"key":"10.1016\/j.nbd.2003.11.013_BIB21","doi-asserted-by":"crossref","first-page":"6318","DOI":"10.1074\/jbc.M110371200","article-title":"Presenilin-dependent gamma-secretase-like intramembrane cleavage of ErbB4","volume":"277","author":"Lee","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.nbd.2003.11.013_BIB22","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1016\/S0092-8674(01)00623-7","article-title":"The unfolding tale of the unfolded protein response","volume":"107","author":"Ma","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.nbd.2003.11.013_BIB23","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1046\/j.1471-4159.2002.01190.x","article-title":"TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation","volume":"83","author":"McLean","year":"2002","journal-title":"J. Neurochem."},{"key":"10.1016\/j.nbd.2003.11.013_BIB24","doi-asserted-by":"crossref","first-page":"6288","DOI":"10.1093\/emboj\/20.22.6288","article-title":"Manipulation of oxidative protein folding and PDI redox state in mammalian cells","volume":"20","author":"Mezghrani","year":"2001","journal-title":"EMBO J."},{"key":"10.1016\/j.nbd.2003.11.013_BIB25","doi-asserted-by":"crossref","first-page":"4660","DOI":"10.1073\/pnas.050010197","article-title":"mRNA splicing-mediated C-terminal replacement of transcription factor Hac1p is required for efficient activation of the unfolded protein response","volume":"97","author":"Mori","year":"2000","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.nbd.2003.11.013_BIB26","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1016\/S0896-6273(00)80637-6","article-title":"Effects of PS1 deficiency on membrane protein trafficking in neurons","volume":"21","author":"Naruse","year":"1998","journal-title":"Neuron"},{"key":"10.1016\/j.nbd.2003.11.013_BIB27","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/S0092-8674(00)81667-0","article-title":"A role for presenilin-1 in nuclear accumulation of Ire1 fragments and induction of the mammalian unfolded protein response","volume":"99","author":"Niwa","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.nbd.2003.11.013_BIB28","doi-asserted-by":"crossref","first-page":"23685","DOI":"10.1074\/jbc.M003061200","article-title":"Endoplasmic reticulum oxidoreductin 1-lbeta (ERO1-Lbeta), a human gene induced in the course of the unfolded protein response","volume":"275","author":"Pagani","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.nbd.2003.11.013_BIB29","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1038\/35046500","article-title":"Upregulation of BiP and CHOP by the unfolded-protein response is independent of presenilin expression","volume":"2","author":"Sato","year":"2000","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.nbd.2003.11.013_BIB30","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1038\/nm0896-864","article-title":"Secreted amyloid \u03b2-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 APP mutations linked to familial Alzheimer's disease","volume":"2","author":"Scheuner","year":"1996","journal-title":"Nat. Med."},{"key":"10.1016\/j.nbd.2003.11.013_BIB31","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1146\/annurev.ne.17.030194.002421","article-title":"Normal and abnormal biology of the beta-amyloid precursor protein","volume":"17","author":"Selkoe","year":"1994","journal-title":"Annu. Rev. Neurosci."},{"key":"10.1016\/j.nbd.2003.11.013_BIB32","doi-asserted-by":"crossref","first-page":"A23","DOI":"10.1038\/399a023","article-title":"Translating cell biology into therapeutic advances in Alzheimer's disease","volume":"399","author":"Selkoe","year":"1999","journal-title":"Nature"},{"key":"10.1016\/j.nbd.2003.11.013_BIB33","doi-asserted-by":"crossref","first-page":"44736","DOI":"10.1074\/jbc.M104092200","article-title":"Endoplasmic reticulum stress-induced cysteine protease activation in cortical neurons: effect of an Alzheimer's disease-linked presenilin-1 knock-in mutation","volume":"276","author":"Siman","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.nbd.2003.11.013_BIB34","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1016\/S0896-6273(02)01045-0","article-title":"The unfolded protein response modulates disease severity in Pelizaeus\u2013Merzbacher disease","volume":"36","author":"Southwood","year":"2002","journal-title":"Neuron"},{"key":"10.1016\/j.nbd.2003.11.013_BIB35","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1006\/nbdi.2001.0405","article-title":"Endoproteolysis of the ER stress transducer ATF6 in the presence of functionally inactive presenilins","volume":"8","author":"Steiner","year":"2001","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.nbd.2003.11.013_BIB36","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/nm0196-93","article-title":"Presence of soluble amyloid beta-peptide precedes amyloid plaque formation in Down's syndrome","volume":"2","author":"Teller","year":"1996","journal-title":"Nat. Med."},{"key":"10.1016\/j.nbd.2003.11.013_BIB37","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/S0968-0004(00)89100-8","article-title":"Defective protein folding as a basis of human disease","volume":"20","author":"Thomas","year":"1995","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.nbd.2003.11.013_BIB38","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/S0092-8674(00)80835-1","article-title":"Functional and genomic analysis reveal an essential coordination between the unfolded protein response and ER-associated degradation","volume":"101","author":"Travers","year":"2000","journal-title":"Cell"},{"key":"10.1016\/j.nbd.2003.11.013_BIB39","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1091\/mbc.5.12.1311","article-title":"The differential effects of dithiothreitol and 2-mercaptoethanol on the secretion of partially and completely assembled immunoglobulins suggest that thiol-mediated retention does not take place in or beyond the Golgi","volume":"5","author":"Valetti","year":"1994","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.nbd.2003.11.013_BIB40","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/0092-8674(89)90177-3","article-title":"Identification, biogenesis, and localization of precursors of Alzheimer's disease A4 amyloid protein","volume":"57","author":"Weidemann","year":"1989","journal-title":"Cell"},{"key":"10.1016\/j.nbd.2003.11.013_BIB41","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/19077","article-title":"Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity","volume":"398","author":"Wolfe","year":"1999","journal-title":"Nature"},{"key":"10.1016\/j.nbd.2003.11.013_BIB42","doi-asserted-by":"crossref","first-page":"25552","DOI":"10.1074\/jbc.273.40.25552","article-title":"The chaperone Bip\/GRP78 binds to amyloid precursor protein and decreases A\u03b240 and A\u03b242 secretion","volume":"273","author":"Yang","year":"1998","journal-title":"J. Biol. Chem."}],"container-title":["Neurobiology of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096999610300250X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096999610300250X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,15]],"date-time":"2019-02-15T06:54:56Z","timestamp":1550213696000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S096999610300250X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,3]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,3]]}},"alternative-id":["S096999610300250X"],"URL":"https:\/\/doi.org\/10.1016\/j.nbd.2003.11.013","relation":{},"ISSN":["0969-9961"],"issn-type":[{"value":"0969-9961","type":"print"}],"subject":[],"published":{"date-parts":[[2004,3]]}}}