{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:52:00Z","timestamp":1777884720180,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2008,5,1]],"date-time":"2008-05-01T00:00:00Z","timestamp":1209600000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2008,5]]},"abstract":"<jats:p>Infantile neuronal ceroid lipofuscinosis (INCL), also known as Santavuori-Haltia disease, is an inherited neurodegenerative disorder caused by a mutation in the gene encoding the lysosomal enzyme palmitoyl-protein-thioesterase-1 (PPT1). Fatty acid\u2013modified proteins are not degraded and accumulate as granular osmiophilic deposits in cells in the central nervous system; patients have blindness, seizures, progressive psychomotor deterioration, and die in early childhood. Although the disease manifests clinically primarily with neurological symptoms, visceral storage also accumulates. A murine model of INCL due to PPT1 deficiency exhibits clinical findings and pathology similar to those seen in patients with INCL. Homozygous PPT1-deficient mice have a shortened life span and neurological abnormalities including seizures, blindness, and mental and motor deficits. Widespread granular osmiophilic deposits (GRODs) accumulate in lysosomes in neurons and glia in the brain, retinal cells, kidney glomerular cells, aortic smooth muscle cells, and, in lesser amounts, in the fixed-tissue macrophage system. Accumulation of GRODs in aortic smooth muscle cells is accompanied by abnormalities in cardiac function and aortic root dilatation. This PPT1-deficient murine model is a well-defined genetic system that can be used to test potential therapies for lysosomal storage disease and to study the pathophysiology of INCL.<\/jats:p>","DOI":"10.2350\/07-03-0242.1","type":"journal-article","created":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T08:04:56Z","timestamp":1213344296000},"page":"185-192","source":"Crossref","is-referenced-by-count":30,"title":["A Murine Model of Infantile Neuronal Ceroid Lipofuscinosis\u2014Ultrastructural Evaluation of Storage in the Central Nervous System and Viscera"],"prefix":"10.1177","volume":"11","author":[{"given":"Nancy","family":"Galvin","sequence":"first","affiliation":[{"name":"Department of Pathology, Saint Louis University School of Medicine, 1402 South Grand Boulevard, St Louis, MO 63104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole","family":"Vogler","sequence":"additional","affiliation":[{"name":"Department of Pathology, Saint Louis University School of Medicine, 1402 South Grand Boulevard, St Louis, MO 63104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beth","family":"Levy","sequence":"additional","affiliation":[{"name":"Department of Pathology, Saint Louis University School of Medicine, 1402 South Grand Boulevard, St Louis, MO 63104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Attila","family":"Kovacs","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan","family":"Griffey","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark 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