{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:41:46Z","timestamp":1791013306498,"version":"4.1.0"},"reference-count":45,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"4897","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1989,3,17]]},"abstract":"<jats:p>\n            The adult form of Tay-Sachs disease, adult G\n            <jats:sub>M2<\/jats:sub>\n            gangliosidosis, is an autosomal recessive disorder that results from mutations in the \u03b1 chain of \u03b2-hexosaminidase A. This disorder, like infantile Tay-Sachs disease, is more frequent in the Ashkenazi Jewish population. A point mutation in the \u03b1-chain gene was identified that results in the substitution of Gly\n            <jats:sup>269<\/jats:sup>\n            with Ser in eight Ashkenazi adult G\n            <jats:sub>M2<\/jats:sub>\n            gangliosidosis patients from five different families. This amino acid substitution was shown to depress drastically the catalytic activity of the \u03b1 chain after expression in COS-1 cells. All of these patients proved to be compound heterozygotes of the allele with the Gly to Ser change and one of the two Ashkenazi infantile Tay-Sachs alleles. These findings will aid in the diagnosis and understanding of \u03b2-hexosaminidase A deficiency disorders.\n          <\/jats:p>","DOI":"10.1126\/science.2522679","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T21:21:28Z","timestamp":1160083288000},"page":"1471-1474","source":"Crossref","is-referenced-by-count":106,"title":["The Mutations in Ashkenazi Jews with Adult G\n            <sub>M2<\/sub>\n            Gangliosidosis, the Adult Form of Tay-Sachs Disease"],"prefix":"10.1126","volume":"243","author":[{"given":"Ruth","family":"Navon","sequence":"first","affiliation":[{"name":"Genetics and Biochemistry Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, Bethesda, MD 20892."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard L.","family":"Proia","sequence":"additional","affiliation":[{"name":"Genetics and Biochemistry Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, Bethesda, MD 20892."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"publisher","DOI":"10.1038\/333085a0"},{"key":"e_1_2_1_2_1","first-page":"1408","volume":"69","year":"1972","unstructured":"AVIV, H, PURIFICATION OF BIOLOGICALLY-ACTIVE GLOBIN MESSENGER-RNA BY CHROMATOGRAPHY ON OLIGOTHYMIDYLIC-ACID-CELLULOSE, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 69: 1408 (1972).","journal-title":"PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/0009-8981(84)90215-8","volume":"143","year":"1984","unstructured":"BAYLERAN, J, SYNTHESIS OF 4-METHYLUMBELLIFERYL-BETA-D-N-ACETYLGLUCOSAMINE-6-SULFATE AND ITS USE IN CLASSIFICATION OF GM2 GANGLIOSIDOSIS GENOTYPES, CLINICA CHIMICA ACTA 143: 73 (1984).","journal-title":"CLINICA CHIMICA ACTA"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00591a005"},{"key":"e_1_2_1_5_1","first-page":"900","volume":"35","year":"1983","unstructured":"CONZELMANN, E, GANGLIOSIDE-GM2 N-ACETYL-BETA-D-GALACTOSAMINIDASE ACTIVITY IN CULTURED FIBROBLASTS OF LATE-INFANTILE AND ADULT GM2-GANGLIOSIDOSIS PATIENTS AND OF HEALTHY PROBANDS WITH LOW HEXOSAMINIDASE LEVEL, AMERICAN JOURNAL OF HUMAN GENETICS 35: 900 (1983).","journal-title":"AMERICAN JOURNAL OF HUMAN GENETICS"},{"key":"e_1_2_1_6_1","first-page":"109","volume":"14","year":"1983","unstructured":"DALE, AJD, FAMILIAL HEXOSAMINIDASE-A DEFICIENCY WITH KUGELBERG-WELANDER PHENOTYPE AND MENTAL CHANGE, ANNALS OF NEUROLOGY 14: 109 (1983).","journal-title":"ANNALS OF NEUROLOGY"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"11070","DOI":"10.1016\/S0021-9258(18)90623-X","volume":"259","year":"1984","unstructured":"d'Azzo, A., Journal of Biological Chemistry 259: 11070 (1984).","journal-title":"Journal of Biological Chemistry"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(83)90418-9"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/0006-291X(84)91624-3","volume":"119","year":"1984","unstructured":"FRISCH, A, HEXOSAMINIDASE A DEFICIENT ADULTS - 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