{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:15:48Z","timestamp":1757574948045},"reference-count":42,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4861,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The neuronal ceroid lipofuscinoses (NCL) are a group of inherited neurodegenerative diseases characterized by massive intralysosomal accumulation of storage materials. We have studied the protein patterns in 5 NCL, 5 control, and one Alzheimer disease brains. When protein patterns in NCL and control brain gray matter homogenates were examined by SDS\u2010PAGE, NCL brains showed an absence or greatly reduced amounts of the M<jats:sub>r<\/jats:sub> 160\u2013180 kDa component and reduced amounts of the M<jats:sub>r<\/jats:sub> 29\u201336 kDa component. Concomitantly, an increase in several components with M<jats:sub>r<\/jats:sub>s of 45\u201350 kDa was noted. The 180 kDa polypeptide appears to be a glycoprotein because it was bound to the lectins concanavalin A and <jats:italic>Ulex europaeus.<\/jats:italic><\/jats:p><jats:p>Recently, the abnormal processing of amyloid protein precursor (APP) and its potential role in NCL have been suggested. Possible defects in tissue proteases and protease inhibitors may be considered responsible for the presence of these amyloid beta protein precursor fragments.<\/jats:p><jats:p>To examine this possibility we are using polyclonal antibodies to the C terminal 672\u2013695 (APP) and monoclonal antibodies to inter\u2010\u03b1\u2010trypsin inhibitor. Polypeptides with molecular weights of approximately 35\u201338 kDa were detected in the NCL brain, but not in controls in both cases. These findings suggest abnormal protein processing in NCL brain tissue, disturbances in protein and glycocon\u2010jugate metabolism, impaired lysosomal function (i.e., metabolic enzyme and\/or proteases\/ proteinase inhibitor abnormalities), and the involvement of improperly processed APP.<\/jats:p>","DOI":"10.1002\/ajmg.1320420429","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:39:44Z","timestamp":1118497184000},"page":"568-574","source":"Crossref","is-referenced-by-count":15,"title":["Altered protein patterns in brains of children with neuronal ceroid lipofuscinosis"],"prefix":"10.1002","volume":"42","author":[{"given":"K. E.","family":"Wisniewski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Gordon\u2010Majszak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Maslinski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Heaney\u2010Kieras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198502000-00014"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310630"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(87)80116-X"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","unstructured":"DawsonG GlaserP(1988) Abnormal cathepsin B activity in Batten disease.Am J Med Genet(Suppl 5) 209\u2013220.","DOI":"10.1002\/ajmg.1320310624"},{"issue":"1","key":"e_1_2_1_6_1","first-page":"51","article-title":"The biochemical defect in Batten's disease. 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