脊髓小脑萎缩
中文名称
通路描述
脊髓小脑萎缩（SCAs）是一组进行性神经退行性疾病，其特征是由于小脑的主要功能障碍而导致平衡丧失和运动协调障碍。强有力的证据表明，转录失调、蛋白质聚集和清除、自噬、泛素 - 蛋白酶体系统、钙稳态改变、线粒体缺陷、有毒 RNA 获得功能机制以及最终神经元凋亡特征导致的细胞死亡在 SCA 疾病进展中起着主要致病作用。
英文描述
G alpha (z) signalling events The heterotrimeric G protein G alpha (z), is a member of the G (i) family. Unlike other G alpha (i) family members it lacks an ADP ribosylation site cysteine four residues from the carboxyl terminus and is thus pertussis toxin-insensitive. It inhibits adenylyl cyclase types I, V and VI (Wong Y H et al. 1992). G alpha (z) interacts with the Rap1 GTPase activating protein (Rap1GAP) to attenuate Rap1 signaling. Like all G-proteins G alpha (z) has an intrinsic GTPase activity, but this activity tends to be lower for the pertussis toxin insensitive G-proteins, most strikingly so for G alpha (z), whose kcat value for GTP hydrolysis is 200-fold lower than those of G alpha (s) or G alpha (i) (Grazziano et al. 1989). G alpha (z) knockout mice have disrupted platelet aggregation at physiological concentrations of epinephrine and responses to several neuroactive drugs are altered (Yang et al. 2000). Regulator of G-protein Signalling (RGS) proteins can regulate the activity of G alpha (z) (Soundararajan M et al. 2008).
所含基因
49 个基因