{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["111(19)"],"submitter":["Jiang M"],"pubmed_abstract":["Obesity impairs male fertility, providing evidence for a link between adipose tissue and reproductive function; however, potential consequences of adipose tissue paucity on fertility remain unknown. Lack of s.c. fat is a hallmark of Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), which is caused by mutations in BSCL2-encoding seipin. Mice with a targeted deletion of murine seipin model BSCL2 with severe lipodystrophy, insulin resistance, and fatty liver but also exhibit male sterility. Here, we report teratozoospermia syndrome in a lipodystrophic patient with compound BSCL2 mutations, with sperm defects resembling the defects of infertile seipin null mutant mice. Analysis of conditional mouse mutants revealed that adipocyte-specific loss of seipin causes progressive lipodystroph"],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pagination":["7054-9"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4024893"],"repository":["biostudies-literature"],"pubmed_title":["Lack of testicular seipin causes teratozoospermia syndrome in men."],"pmcid":["PMC4024893"],"pubmed_authors":["Yang H","Gao M","Sha J","Guo X","He H","Wu C","Xiao X","Jiang M","Zhou Z","Liu G"],"additional_accession":[]},"is_claimable":false,"name":"Lack of testicular seipin causes teratozoospermia syndrome in men.","description":"Obesity impairs male fertility, providing evidence for a link between adipose tissue and reproductive function; however, potential consequences of adipose tissue paucity on fertility remain unknown. Lack of s.c. fat is a hallmark of Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), which is caused by mutations in BSCL2-encoding seipin. Mice with a targeted deletion of murine seipin model BSCL2 with severe lipodystrophy, insulin resistance, and fatty liver but also exhibit male sterility. Here, we report teratozoospermia syndrome in a lipodystrophic patient with compound BSCL2 mutations, with sperm defects resembling the defects of infertile seipin null mutant mice. Analysis of conditional mouse mutants revealed that adipocyte-specific loss of seipin causes progressive lipodystroph","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 May","modification":"2025-04-05T13:37:05.833Z","creation":"2019-03-27T01:28:26Z"},"accession":"S-EPMC4024893","cross_references":{"pubmed":["24778225"],"doi":["10.1073/pnas.1324025111"]}}