{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ying L"],"funding":["US National Institutes of Health","NICHD NIH HHS","Beatriu de Pinós"],"pagination":["103-113"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4093838"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["1"],"pubmed_abstract":["Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis resulting from a defect in 7-dehydrocholesterol reductase (DHCR7), the enzyme that produces cholesterol from its immediate precursor 7-dehydrocholesterol. Current therapy employing dietary cholesterol is inadequate. As SLOS is caused by a defect in a single gene, restoring enzyme functionality through gene therapy may be a direct approach for treating this debilitating disorder. In the present study, we first packaged a human DHCR7 construct into adeno-associated virus (AAV) vectors having either type-2 (AAV2) or type-8 (AAV2/8) capsid, and administered treatment to juvenile mice. While a positive response (assessed by increases in serum and liver cholesterol) was seen in both groups, the improvement was greater "],"journal":["Molecular genetics and metabolism reports"],"pubmed_title":["Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors."],"pmcid":["PMC4093838"],"funding_grant_id":["R01 HD053036","R01HD053036"],"pubmed_authors":["Watson G","Matabosch X","Shackleton C","Serra M","Watson B","Ying L"],"additional_accession":[]},"is_claimable":false,"name":"Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors.","description":"Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis resulting from a defect in 7-dehydrocholesterol reductase (DHCR7), the enzyme that produces cholesterol from its immediate precursor 7-dehydrocholesterol. Current therapy employing dietary cholesterol is inadequate. As SLOS is caused by a defect in a single gene, restoring enzyme functionality through gene therapy may be a direct approach for treating this debilitating disorder. In the present study, we first packaged a human DHCR7 construct into adeno-associated virus (AAV) vectors having either type-2 (AAV2) or type-8 (AAV2/8) capsid, and administered treatment to juvenile mice. While a positive response (assessed by increases in serum and liver cholesterol) was seen in both groups, the improvement was greater ","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014","modification":"2025-06-01T02:22:43.998Z","creation":"2019-03-27T01:31:54Z"},"accession":"S-EPMC4093838","cross_references":{"pubmed":["25024934"],"doi":["10.1016/j.ymgmr.2014.02.002"]}}