Hh 突变体通过 ERAD 降解
中文名称
通路描述
Hh 信号通路对于多种发育过程至关重要，破坏 Hh 配体正常加工和生物合成的突变会导致新生儿异常。SHH 是多种与先天性脑裂畸形（holoprosencephaly）相关的基因之一，该疾病导致脑和颅面发育异常（Roessler et al, 2009; 综述于 Roessler and Muenke, 2011）。与疾病相关的 SHH 变体影响前体的自催化加工，严重损害分泌型活性 Hh-Np 的产生，从而阻断信号传导（综述于 Pan et al, 2013）。
英文描述
Caspase activation via Death Receptors in the presence of ligand Caspase-8 is synthesized as zymogen (procaspase-8) and is formed from procaspase-8 as a cleavage product. However, the cleavage itself appears not to be sufficient for the formation of an active caspase-8. Only the coordinated dimerization and cleavage of the zymogen produce efficient activation in vitro and apoptosis in cellular systems [Boatright KM and Salvesen GS 2003; Keller N et al 2010; Oberst A et al 2010].The caspase-8 zymogens are present in the cells as inactive monomers, which are recruited to the death-inducing signaling complex (DISC) by homophilic interactions with the DED domain of FADD. The monomeric zymogens undergo dimerization and the subsequent conformational changes at the receptor complex, which results in the formation of catalytically active form of procaspase-8.[Boatright KM et al 2003; Donepudi M et al 2003; Keller N et al 2010; Oberst A et al 2010].
所含基因
16 个基因