{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Du F"],"funding":["NINDS NIH HHS"],"pagination":["1883-96"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2860889"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["19(10)"],"pubmed_abstract":["Mutations in spastin are the most frequent cause of the neurodegenerative disease autosomal dominant-hereditary spastic paraplegia (AD-HSP). Drosophila melanogaster lacking spastin exhibit striking behavioral similarities to human patients suffering from AD-HSP, suggesting conservation of Spastin function between the species. Consistent with this, we show that exogenous expression of wild-type Drosophila or human spastin rescues behavioral and cellular defects in spastin null flies equivalently. This enabled us to generate genetically representative models of AD-HSP, which arises from dominant mutations in spastin rather than a complete loss of the gene. Flies co-expressing one copy of wild-type human spastin and one encoding the K388R catalytic domain mutation in the fly spastin null back"],"journal":["Human molecular genetics"],"pubmed_title":["Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia."],"pmcid":["PMC2860889"],"funding_grant_id":["NS063896"],"pubmed_authors":["Ozdowski EF","Du F","Marchuk DA","Sherwood NT","Kotowski IK"],"additional_accession":[]},"is_claimable":false,"name":"Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia.","description":"Mutations in spastin are the most frequent cause of the neurodegenerative disease autosomal dominant-hereditary spastic paraplegia (AD-HSP). Drosophila melanogaster lacking spastin exhibit striking behavioral similarities to human patients suffering from AD-HSP, suggesting conservation of Spastin function between the species. Consistent with this, we show that exogenous expression of wild-type Drosophila or human spastin rescues behavioral and cellular defects in spastin null flies equivalently. This enabled us to generate genetically representative models of AD-HSP, which arises from dominant mutations in spastin rather than a complete loss of the gene. Flies co-expressing one copy of wild-type human spastin and one encoding the K388R catalytic domain mutation in the fly spastin null back","dates":{"release":"2010-01-01T00:00:00Z","publication":"2010 May","modification":"2025-04-22T05:11:23.312Z","creation":"2019-03-27T00:30:24Z"},"accession":"S-EPMC2860889","cross_references":{"pubmed":["20154342"],"doi":["10.1093/hmg/ddq064"]}}