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PTEN

机译：PTEN

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PTEN (phosphatase and tensin homolog on chromosome ten) is a dual protein/lipid phosphatase that dephosphorylates PIP3, thereby inhibiting the AKT/mTOR pathway. This inhibition ultimately decreases protein translation, cell proliferation and cell growth. In the central nervous system, inhibition of PTEN leads to increased stem cell proliferation, somatic, dendritic and axonal growth, accelerated spine maturation, diminished synaptic plasticity, and altered intrinsic excitability. In agreement with these findings, patients carrying single-copy inactivating mutations of PTEN suffer from autism, macrocephaly, mental retardation, and epilepsy.~(1) Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005; 42:318 - 21; http://dx.doi.org/10.1136/jmg.2004.024646; PMID: 15805158 [Crossref], [PubMed], [Web of Science ®]?[Google Scholar]~(-)~(9) Hobert JA, Embacher R, Mester JL, Frazier TW 2nd, Eng C. Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. Eur J Hum Genet 2014; 22:273 - 6; http://dx.doi.org/10.1038/ejhg.2013.114; PMID: 23695273 [Crossref], [PubMed], [Web of Science ®]?[Google Scholar] Understanding the mechanisms through which PTEN modulates the structure, function, and plasticity of cortical networks is a major focus of study. Preventing and reversing the changes induced by loss of Pten in model animals will pave the way for treatments in humans.
机译：PTEN（第10号染色体上的磷酸酶和张力蛋白同源物）是一种双重蛋白质/脂质磷酸酶，可对PIP3进行去磷酸化，从而抑制AKT / mTOR途径。这种抑制最终降低了蛋白质翻译，细胞增殖和细胞生长。在中枢神经系统中，抑制PTEN会导致干细胞增殖增加，体细胞，树突状和轴突生长，脊柱成熟加速，突触可塑性下降以及内在兴奋性改变。与这些发现一致的是，携带PTEN单拷贝失活突变的患者患有自闭症，大头畸形，智力低下和癫痫病。〜（1）Butler MG，Dasouki MJ，Zhou XP，Talebizadeh Z，Brown M，Takahashi TN，Miles JH，Wang CH，Stratton R，Pilarski R等。具有自闭症谱系障碍和极端大头畸形与种系PTEN肿瘤抑制基因突变相关的个体亚群。医学遗传杂志》 2005年; 42：318-21; http://dx.doi.org/10.1136/jmg.2004.024646; PMID：15805158 [Crossref]，[PubMed]，[Web of Science®]？[Google Scholar]〜（-）〜（9）Hobert JA，Embacher R，Mester JL，Frazier TW 2nd，Eng C.生化筛选和PTEN自闭症谱系障碍和大头畸形个体的突变分析。 Eur J Hum Genet 2014; 22：273-6; http://dx.doi.org/10.1038/ejhg.2013.114; PMID：23695273 [Crossref]，[PubMed]，[Web of Science®]？[Google Scholar]了解PTEN调节皮层网络结构，功能和可塑性的机制是研究的主要重点。预防和逆转模型动物中Pten丢失引起的变化，将为人类治疗铺平道路。

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