{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lorenzo DN"],"funding":["NICHD NIH HHS","NIMH NIH HHS","NINDS NIH HHS"],"pagination":["195-212"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10598481"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(4)"],"pubmed_abstract":["Spectrins are cytoskeletal proteins that are expressed ubiquitously in the mammalian nervous system. Pathogenic variants in SPTAN1, SPTBN1, SPTBN2 and SPTBN4, four of the six genes encoding neuronal spectrins, cause neurological disorders. Despite their structural similarity and shared role as molecular organizers at the cell membrane, spectrins vary in expression, subcellular localization and specialization in neurons, and this variation partly underlies non-overlapping disease presentations across spectrinopathies. Here, we summarize recent progress in discerning the local and long-range organization and diverse functions of neuronal spectrins. We provide an overview of functional studies using mouse models, which, together with growing human genetic and clinical data, are helping to ill"],"journal":["Nature reviews. Neuroscience"],"pubmed_title":["Spectrins: molecular organizers and targets of neurological disorders."],"pmcid":["PMC10598481"],"funding_grant_id":["R01 NS110810","R01 MH127848","T32 HD083185"],"pubmed_authors":["Lorenzo DN","Edwards RJ","Slavutsky AL"],"additional_accession":[]},"is_claimable":false,"name":"Spectrins: molecular organizers and targets of neurological disorders.","description":"Spectrins are cytoskeletal proteins that are expressed ubiquitously in the mammalian nervous system. Pathogenic variants in SPTAN1, SPTBN1, SPTBN2 and SPTBN4, four of the six genes encoding neuronal spectrins, cause neurological disorders. Despite their structural similarity and shared role as molecular organizers at the cell membrane, spectrins vary in expression, subcellular localization and specialization in neurons, and this variation partly underlies non-overlapping disease presentations across spectrinopathies. Here, we summarize recent progress in discerning the local and long-range organization and diverse functions of neuronal spectrins. We provide an overview of functional studies using mouse models, which, together with growing human genetic and clinical data, are helping to ill","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Apr","modification":"2026-05-29T05:57:35.793Z","creation":"2026-04-08T03:49:01.935Z"},"accession":"S-EPMC10598481","cross_references":{"pubmed":["36697767"],"doi":["10.1038/s41583-022-00674-6"]}}