{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lenk GM"],"funding":["NICHD NIH HHS","NINDS NIH HHS","National Institutes of Health Cellular and Molecular Biology Training","National Institutes of Health","NIGMS NIH HHS"],"pagination":["340-7"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4706117"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(2)"],"pubmed_abstract":["The lipid phosphatase FIG4 is a subunit of the protein complex that regulates biosynthesis of the signaling lipid PI(3,5)P2. Mutations of FIG4 result in juvenile lethality and spongiform neurodegeneration in the mouse, and are responsible for the human disorders Charcot-Marie-Tooth disease, Yunis-Varon syndrome and polymicrogyria with seizures. We previously demonstrated that conditional expression of a wild-type FIG4 transgene in neurons is sufficient to rescue most of the abnormalities of Fig4 null mice, including juvenile lethality and extensive neurodegeneration. To evaluate the contribution of the phosphatase activity to the in vivo function of Fig4, we introduced the mutation p.Cys486Ser into the Sac phosphatase active-site motif CX5RT. Transfection of the Fig4(Cys486Ser) cDNA into c"],"journal":["Human molecular genetics"],"pubmed_title":["Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene."],"pmcid":["PMC4706117"],"funding_grant_id":["T32-GM007315","R01 GM24872","R01GM24872","R01 NS81281","T32 GM007315","R01 GM024872","R01 NS081281","T32 HD007505"],"pubmed_authors":["Lenk GM","Mironova YA","Frei CM","Miller AC","Meisler MH","Giger RJ","Wallen RC"],"additional_accession":[]},"is_claimable":false,"name":"Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.","description":"The lipid phosphatase FIG4 is a subunit of the protein complex that regulates biosynthesis of the signaling lipid PI(3,5)P2. Mutations of FIG4 result in juvenile lethality and spongiform neurodegeneration in the mouse, and are responsible for the human disorders Charcot-Marie-Tooth disease, Yunis-Varon syndrome and polymicrogyria with seizures. We previously demonstrated that conditional expression of a wild-type FIG4 transgene in neurons is sufficient to rescue most of the abnormalities of Fig4 null mice, including juvenile lethality and extensive neurodegeneration. To evaluate the contribution of the phosphatase activity to the in vivo function of Fig4, we introduced the mutation p.Cys486Ser into the Sac phosphatase active-site motif CX5RT. Transfection of the Fig4(Cys486Ser) cDNA into c","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Jan","modification":"2025-04-18T16:28:27.445Z","creation":"2019-03-27T02:06:34Z"},"accession":"S-EPMC4706117","cross_references":{"pubmed":["26604144"],"doi":["10.1093/hmg/ddv480"]}}