{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:42:05Z","timestamp":1791013325326,"version":"4.1.0"},"reference-count":16,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"4293","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1977,5,27]]},"abstract":"<jats:p>\n            Two kittens with progressive neurologic disease had increased concentrations of GM\n            <jats:sub>2<\/jats:sub>\n            ganglioside in their cerebral cortex. Examination under the light microscope revealed cytoplasmic vacuolation of neurons and hepatocytes. Transmission and scanning electron microscopy demonstrated cytoplasmic inclusions encompassed by membranes in various central nervous system cell types and in hepatocytes. Beta-D-\n            <jats:italic>N<\/jats:italic>\n            -acetyl-hexosaminidase activity was reduced to about 1.0 percent of normal in brain, liver, and cultured skin fibroblasts of the diseased kittens; both major electrophoretic forms, A and B, of the enzyme were deficient. In fibroblasts from the parents of the diseased kittens, this enzyme activity was intermediate between that of affected and normal cats, suggesting an autosomal recessive mode of inheritance of the enzyme defect. Histopathological and ultrastructural lesions, glycolipid storage, enzyme defect, and pattern of inheritance are similar to those of human GM\n            <jats:sub>2<\/jats:sub>\n            gangliosidosis type 2.\n          <\/jats:p>","DOI":"10.1126\/science.404709","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T16:03:07Z","timestamp":1160064187000},"page":"1014-1017","source":"Crossref","is-referenced-by-count":136,"title":["GM\n            <sub>2<\/sub>\n            Ganglioside Lysosomal Storage Disease in Cats with \u03b1-Hexosaminidase Deficiency"],"prefix":"10.1126","volume":"196","author":[{"given":"Linda Collins","family":"Cork","sequence":"first","affiliation":[{"name":"College of Veterinary Medicine, University of Georgia, Athens 30602"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John F.","family":"Munnell","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Georgia, Athens 30602"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael D.","family":"Lorenz","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Georgia, Athens 30602"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerome V.","family":"Murphy","sequence":"additional","affiliation":[{"name":"Medical College of Wisconsin, Milwaukee 53233"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry J.","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Comparative Medicine, University of Alabama in Birmingham, Birmingham 35233"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario C.","family":"Rattazzi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics at Children's Hospital, State University of New York at Buffalo, Buffalo, New York 14222"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_2_1_1_1","first-page":"649","volume":"74","year":"1974","unstructured":"BAKER, H.J., ANIMAL-MODEL OF HUMAN DISEASE - 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