FV 变体在 a.a.534 处的缺陷性裂解
中文名称
通路描述
Factor V Leiden(最常见)和 Factor V Bonn 血栓性体质是由 FV R534Q 和 FV A540V 错义突变引起的遗传性疾病,分别导致对活化蛋白 C(APC)的抵抗,从而损害其抑制因子 Va(FVa)的能力,即通过裂解残基 R534 使其失活。这些 FV 变体的缺陷性裂解还可能干扰 APC 介导的因子 VIIIa(FVIIIa)灭活,其中未激活但经 APC 裂解的 FV 可作为 APC 辅因子。除了 APC 抵抗外,FVa Bonn(A540V)还表现出对因子 Xa(FXa)亲和力增加(Pezeshkpoor B et al., 2016),这削弱了 APC 在 R534 处的介导性裂解,因为 FXa 和 APC 在 FV 上共享共同结合位点(综述:Bernardi F, 2016)。这些条件导致 FVa 活性延长、促凝血酶复合物 FVa:FXa 功能增强以及持续凝血酶生成,这可能会增加携带 FV Leiden 或 FV Bonn 突变个体发生深静脉血栓的风险(综述:Pastori et al., 1999; Perez-Pujol S et al., 2012; van Cott EM et al., 2016; Albagoush SA et al., 2023; Moore GW et al., 2023)。
英文描述
The correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay exist and both pathways are initiated by poly(A) shortening of the mRNA. In the 5' to 3' pathway, this is followed by decapping which then permits the 5' to 3' exonucleolytic degradation of transcripts. In the 3' to 5' pathway, the exosome, a large multisubunit complex, plays a key role. The exosome exists in archaeal cells, too. In bacteria, endoribonuclease E, a key enzyme involved in RNA decay and processing, organizes a protein complex called degradosome. RNase E or R interacts with the phosphate-dependent exoribonuclease polynucleotide phosphorylase, DEAD-box helicases, and additional factors in the RNA-degrading complex.
所含基因
78 个基因
BTG1
BTG2
BTG3
BTG4
C1D
CNOT1
CNOT10
CNOT2
CNOT3
CNOT4
CNOT6
CNOT6L
CNOT7
CNOT8
CNOT9
DCP1A
DCP1B
DCP2
DCPS
DDX6
DHX36
DIS3
DIS3L
EDC3
EDC4
ENO1
ENO2
ENO3
EXOSC1
EXOSC10
EXOSC2
EXOSC3
EXOSC4
EXOSC5
EXOSC6
EXOSC7
EXOSC8
EXOSC9
HSPA9
HSPD1
LSM1
LSM2
LSM3
LSM4
LSM5
LSM6
LSM7
LSM8
MPHOSPH6
MTREX
NUDT16
PABPC1
PABPC1L
PABPC1L2A
PABPC1L2B
PABPC3
PABPC4
PABPC4L
PABPC5
PAN2
PAN3
PARN
PATL1
PFKL
PFKM
PFKP
PNLDC1
PNPT1
SKIC2
SKIC3
SKIC8
TENT4A
TENT4B
TOB1
TOB2
XRN1
XRN2
ZCCHC7