由于 RDH5 功能缺陷导致的视觉光转导缺陷
中文名称
通路描述
11-顺式视黄醇脱氢酶（RDH5）可在视网膜色素上皮（RPE）细胞中可逆地催化全反式视黄醇（atROL，结合于 RLBP1）氧化为全反式视黄醛（atRAL），使用 NAD+ 作为辅因子。RDH5 功能缺陷导致白点状视网膜病变（RPA，也称为白点状视网膜病变，FA；MIM:136880）。RPA（一种常染色体隐性遗传病）是一种静止性先天性夜盲症，其特征是杆状和锥状感光细胞的再生率降低，以及视网膜或 RPE 中的黄白色病变。参见 Zeitz 等 2015 年的综述。
英文描述
TLR3-mediated TICAM1-dependent programmed cell death TLR3 and TLR4 trigger TRIF(TICAM1)-dependent programmed cell death in various human and mouse cells (Kalai M et al. 2002; Han KJ et al. 2004; Kaiser WJ and Offermann MK 2005; Estornes Y et al. 2012; He S et al. 2011). Apoptosis is a prevalent form of programmed cell death and is mediated by the activation of a set of caspases. In addition to apoptosis, TLR3/TLR4 activation induces RIP3-dependent necroptosis. These two programmed cell-death pathways may suppress each other. When the caspase activity is impaired or inhibited, certain cell types switch the apoptotic death program to necroptosis in response to various stimuli (TNF, Fas, viral infection and other stress stimuli) (Kalai M et al. 2002; Weber A et al. 2010; Feoktistova M et al. 2011, Tenev et al 2011).
所含基因
6 个基因