PubMed:1371116 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/1371116","sourcedb":"PubMed","sourceid":"1371116","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/1371116","text":"Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.\nSphingolipid activator proteins (SAPs) are small, nonenzymic glycoproteins that stimulate lysosomal degradation of various sphingolipids. SAP-1, SAP-2, and two additional potential activator proteins are derived from a common precursor by proteolytic processing. A severe case of sphingolipid storage disease that led to death within 16 weeks was attributed to a possible total deficiency of the SAPs generated by this gene (Harzer, K., Paton, B. C., Poulos, A., Kustermann-Kuhn, B., Roggendorf, W., Grisar, T., and Popp, M. (1989) Eur. J. Pediatr. 149, 31-39). Analysis of the SAP precursor cDNA from the patient and his fetal sibling showed an A to T transversion in the initiation codon. Allele-specific oligonucleotide hybridization revealed that both parents are heterozygous carriers for this mutation. In pulse-chase experiments using antisera raised against SAP-1 or SAP-2, no cross-reacting material could be detected in the patients' fibroblasts.","tracks":[{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":533,"end":537},"obj":"gene:8935"},{"id":"T1","span":{"begin":417,"end":445},"obj":"disease:C0037899"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":136},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":137,"end":274},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":275,"end":399},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":400,"end":583},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":584,"end":673},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":674,"end":676},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":677,"end":685},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":686,"end":698},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":699,"end":827},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":828,"end":945},"obj":"Sentence"},{"id":"TextSentencer_T11","span":{"begin":946,"end":1093},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":136},"obj":"Sentence"},{"id":"T2","span":{"begin":137,"end":274},"obj":"Sentence"},{"id":"T3","span":{"begin":275,"end":399},"obj":"Sentence"},{"id":"T4","span":{"begin":400,"end":583},"obj":"Sentence"},{"id":"T5","span":{"begin":584,"end":673},"obj":"Sentence"},{"id":"T6","span":{"begin":674,"end":676},"obj":"Sentence"},{"id":"T7","span":{"begin":677,"end":685},"obj":"Sentence"},{"id":"T8","span":{"begin":686,"end":698},"obj":"Sentence"},{"id":"T9","span":{"begin":699,"end":827},"obj":"Sentence"},{"id":"T10","span":{"begin":828,"end":945},"obj":"Sentence"},{"id":"T11","span":{"begin":946,"end":1093},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T6","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T7","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T8","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T9","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T10","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T11","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"},{"subj":"T6","pred":"source","obj":"sentences"},{"subj":"T7","pred":"source","obj":"sentences"},{"subj":"T8","pred":"source","obj":"sentences"},{"subj":"T9","pred":"source","obj":"sentences"},{"subj":"T10","pred":"source","obj":"sentences"},{"subj":"T11","pred":"source","obj":"sentences"}]},{"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":743,"end":750},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"9606"},{"subj":"T1","pred":"source","obj":"NCBITAXON"}]},{"project":"DisGeNet-2017-sample","denotations":[{"id":"T1683","span":{"begin":533,"end":536},"obj":"gene:325"},{"id":"T1684","span":{"begin":417,"end":445},"obj":"disease:C0037899"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T1683","obj":"T1684"},{"id":"R2","pred":"associated_with","subj":"T1683","obj":"T1684"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T1683","pred":"source","obj":"DisGeNet-2017-sample"},{"subj":"T1684","pred":"source","obj":"DisGeNet-2017-sample"}]},{"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":1081,"end":1092},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL_0000057"},{"subj":"T1","pred":"source","obj":"Anatomy-UBERON"}]},{"project":"CL-cell","denotations":[{"id":"T1","span":{"begin":1081,"end":1092},"obj":"Cell"}],"attributes":[{"id":"A1","pred":"cl_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL:0000057"},{"subj":"T1","pred":"source","obj":"CL-cell"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"DisGeNET","color":"#ec93d3","default":true},{"id":"sentences","color":"#93eceb"},{"id":"NCBITAXON","color":"#ecd193"},{"id":"DisGeNet-2017-sample","color":"#b793ec"},{"id":"Anatomy-UBERON","color":"#93ec9d"},{"id":"CL-cell","color":"#ec93a3"}]}]}}