{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T09:57:43Z","timestamp":1777802263298,"version":"3.51.4"},"reference-count":19,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[1997,6,1]],"date-time":"1997-06-01T00:00:00Z","timestamp":865123200000},"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":["J Child Neurol"],"published-print":{"date-parts":[[1997,6]]},"abstract":"<jats:p>\n                    Three unrelated North American cases with slowly progressive forms of G\n                    <jats:sub>M1<\/jats:sub>\n                    gangliosidosis were found to have two unique point mutations and a 9 bp insertion in the coding region of the gene encoding \u03b2-galactosidase. Case 1 was noted to have a 9 bp insertion {CAGAATTTT} on one allele between nucleotides 730 and 731 with no other mutations identified in the other allele. In case 2, two point mutations were found: a unique G\u2192A transition at nucleotide 602 causing an Arg\u2192His substitution in codon 201 (mutation R201H); and a previously identified G\u2192T transition at nucleotide 1527 causing a Trp\u2192Cys substitution in codon 509 (mutation W509C), which has been noted in adult and chronic forms of G\n                    <jats:sub>M1<\/jats:sub>\n                    gangliosidosis. Case 3 had a unique point mutation (A\u2192G transition at nucleotide 797) resulting in a Asn\u2192Ser amino acid substitution in codon 266 (mutation N266S), with no other mutations found in the same or the other allele. Single-strand conformation polymorphism performed on over 100 controls did not demonstrate the presence of the point mutations R201H or N266S. Also, the mutant proteins coded by the two point mutations did not show enzymatic activity in the Cos-1 cell expression system confirming that these mutations are associated with low enzyme activity. ( J Child Neurol 1997;12:242\u2014247).\n                  <\/jats:p>","DOI":"10.1177\/088307389701200404","type":"journal-article","created":{"date-parts":[[2008,12,24]],"date-time":"2008-12-24T02:13:25Z","timestamp":1230084805000},"page":"242-247","source":"Crossref","is-referenced-by-count":27,"title":["\u03b2-Galactosidase Gene Mutations in Patients With Slowly Progressive GM1 Gangliosidosis"],"prefix":"10.1177","volume":"12","author":[{"given":"Edward M.","family":"Kaye","sequence":"first","affiliation":[{"name":"Molecular Neurogenetics Unit, Massachusetts General Hospital East and the Department of Neurology, Harvard Medical School Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christo","family":"Shalish","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit, Massachusetts General Hospital East and the Department of Neurology, Harvard Medical School Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Livermore","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit, Massachusetts General Hospital East and the Department of Neurology, Harvard Medical School Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harold A.","family":"Taylor","sequence":"additional","affiliation":[{"name":"The Greenwood Genetics Center Greenwood, NC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger E.","family":"Stevenson","sequence":"additional","affiliation":[{"name":"The Greenwood Genetics Center Greenwood, NC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xandra O.","family":"Breakefield","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit, Massachusetts General Hospital East and the Department of Neurology, Harvard Medical School Boston, MA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[1997,6,1]]},"reference":[{"key":"atypb1","unstructured":"Suzuki Y., Sakuraba H., Akiro O. \u03b2-galactosidase deficiency (\u03b2-galactosidosis): GM1 gangliosidosis and Morquio B disease, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, vol 2. New York, McGraw-Hill, 1995, pp 2785-2823."},{"key":"atypb2","first-page":"1091","volume":"49","author":"Oshima A.","year":"1991","journal-title":"Am J Hum Genet"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(88)80108-6"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1993.2051"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(88)80038-X"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)47114-7"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1089\/dna.1990.9.119"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1089\/dna.1991.10.495"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(05)81033-2"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03672.x"},{"key":"atypb11","first-page":"566","volume":"49","author":"Nishimoto J.","year":"1991","journal-title":"Am J Hum Genet"},{"key":"atypb12","first-page":"435","volume":"49","author":"Yoshida K.","year":"1991","journal-title":"Am J Hum Genet"},{"key":"atypb13","first-page":"881","volume":"53","author":"Boustany RM","year":"1993","journal-title":"Am J Hum Genet"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1021\/bi00591a005"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(87)55023-6"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.7.2437"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90129-8"},{"key":"atypb18","first-page":"1004","volume":"54","author":"Chakraborty S.","year":"1994","journal-title":"Am J Hum Genet"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1993.03510190063028"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307389701200404","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307389701200404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:32:19Z","timestamp":1777494739000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/088307389701200404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,6]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1997,6]]}},"alternative-id":["10.1177\/088307389701200404"],"URL":"https:\/\/doi.org\/10.1177\/088307389701200404","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,6]]}}}