Nuclear PTEN deficiency causes microcephaly with decreased neuronal soma size and increased seizure susceptibility

• Published in: The Journal of biological chemistry Vol. 293; no. 24; pp. 9292 - 9300
• Main Authors: Igarashi, Atsushi, Itoh, Kie, Yamada, Tatsuya, Adachi, Yoshihiro, Kato, Takashi, Murata, Daisuke, Sesaki, Hiromi, Iijima, Miho
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 15.06.2018; American Society for Biochemistry and Molecular Biology
• Subjects: Amino Acid Substitution; Animals; brain; Brain - metabolism; Brain - pathology; Cell Biology; Cell Nucleus - genetics; Cell Nucleus - metabolism; Cell Nucleus - pathology; cell signaling; Cell Size; CRISPR-Cas Systems; Female; Gene Editing; genome editing; lipid signaling; Male; Mice; Microcephaly - complications; Microcephaly - genetics; Microcephaly - pathology; mouse; mouse genetics; Mutation; Neurons - metabolism; Neurons - pathology; nucleus; phosphatase and tensin homolog (PTEN); phosphatidylinositide 3-kinase (PI 3-kinase); Phosphatidylinositol 3-Kinases - metabolism; PIP3 signaling; PTEN Phosphohydrolase - genetics; PTEN Phosphohydrolase - metabolism; Seizures - complications; Seizures - genetics; Seizures - pathology; Signal Transduction; PIP3 signaling; mouse; genome editing; cell signaling; phosphatase and tensin homolog (PTEN); mouse genetics; nucleus; phosphatidylinositide 3-kinase (PI 3-kinase); brain; lipid signaling

Defects in phosphatase and tensin homolog (PTEN) are associated with neurological disorders and tumors. PTEN functions at two primary intracellular locations: the plasma membrane and the nucleus. At the membrane, PTEN functions as a phosphatidylinositol (3,4,5)-trisphosphate phosphatase and suppress...