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Article: Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease

TitleDeletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease
Authors
Issue Date2001
Citation
Nature Genetics, 2001, v. 29, n. 4, p. 396-403 How to Cite?
AbstractInitially identified in high-grade gliomas, mutations in the PTEN tumor-suppressor are also found in many sporadic cancers and a few related autosomal dominant hamartoma syndromes. PTEN is a 3′-specific phosphatidylinositol-3, 4, 5-trisphosphate (PI(3, 4, 5)P3) phosphatase and functions as a negative regulator of PI3K signaling. We generated a tissue-specific deletion of the mouse homolog Pten to address its role in brain function. Mice homozygous for this deletion (PtenloxP/loxP;Gfap-cre), developed seizures and ataxia by 9 wk and died by 29 wk. Histological analysis showed brain enlargement in PtenloxP/loxP;Gfap-cre mice as a consequence of primary granule-cell dysplasia in the cerebellum and dentate gyrus. Pten mutant cells showed a cell-autonomous increase in soma size and elevated phosphorylation of Akt. These data represent the first evidence for the role of Pten and Akt in cell size regulation in mammals and provide an animal model for a human phakomatosis condition, Lhermitte-Duclos disease (LDD).
Persistent Identifierhttp://hdl.handle.net/10722/291579
ISSN
2023 Impact Factor: 31.7
2023 SCImago Journal Rankings: 17.300
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorBackman, Stéphanie A.-
dc.contributor.authorStambolic, Vuk-
dc.contributor.authorSuzuki, Akira-
dc.contributor.authorHaight, Jillian-
dc.contributor.authorElia, Andrew-
dc.contributor.authorPretorius, James-
dc.contributor.authorTsao, Ming Sound-
dc.contributor.authorShannon, Patrick-
dc.contributor.authorBolon, Brad-
dc.contributor.authorIvy, Gwen O.-
dc.contributor.authorMak, Tak W.-
dc.date.accessioned2020-11-17T14:54:40Z-
dc.date.available2020-11-17T14:54:40Z-
dc.date.issued2001-
dc.identifier.citationNature Genetics, 2001, v. 29, n. 4, p. 396-403-
dc.identifier.issn1061-4036-
dc.identifier.urihttp://hdl.handle.net/10722/291579-
dc.description.abstractInitially identified in high-grade gliomas, mutations in the PTEN tumor-suppressor are also found in many sporadic cancers and a few related autosomal dominant hamartoma syndromes. PTEN is a 3′-specific phosphatidylinositol-3, 4, 5-trisphosphate (PI(3, 4, 5)P3) phosphatase and functions as a negative regulator of PI3K signaling. We generated a tissue-specific deletion of the mouse homolog Pten to address its role in brain function. Mice homozygous for this deletion (PtenloxP/loxP;Gfap-cre), developed seizures and ataxia by 9 wk and died by 29 wk. Histological analysis showed brain enlargement in PtenloxP/loxP;Gfap-cre mice as a consequence of primary granule-cell dysplasia in the cerebellum and dentate gyrus. Pten mutant cells showed a cell-autonomous increase in soma size and elevated phosphorylation of Akt. These data represent the first evidence for the role of Pten and Akt in cell size regulation in mammals and provide an animal model for a human phakomatosis condition, Lhermitte-Duclos disease (LDD).-
dc.languageeng-
dc.relation.ispartofNature Genetics-
dc.titleDeletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease-
dc.typeArticle-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1038/ng782-
dc.identifier.pmid11726926-
dc.identifier.scopuseid_2-s2.0-0035733762-
dc.identifier.volume29-
dc.identifier.issue4-
dc.identifier.spage396-
dc.identifier.epage403-
dc.identifier.isiWOS:000172507500014-
dc.identifier.f10001002417-
dc.identifier.issnl1061-4036-

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