LRRK2结构域及常见突变位点汇编.doc

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LRRK2结构域及常见突变位点汇编

On the Road to Leucine-Rich Repeat Kinase 2 Signalling: Evidence from Cellular and in vivo Studies LRRK2结构域: Fig. 1. Schematic representation of the domain structure of LRRK2. Amino acid substitutions are depicted below the structure: pathogenic mutations in bold; risk variant in black; functional mutations in grey. ANK =Ankyrin repeat domain of LRRK2; LRR = leucine-rich repeat. Fig. 2. Effect of LRRK2 overexpression on cell viability in cultured cells and neurons. ^kin = Deletion of the kinase domain; KD = kinase dead; GD = GTPase dead. The legend displays the first author and year of the report as well as the cell type tested. Black: tests performed in primary neuron culture. Red: tests in immortalised cells. a Representation of the percentage of non-viable cells/neurons obser ved following overexpressing LRRK2 wt and mutants as reported in the literature. b Cell viability of mutant LRRK2 normalised to the viability of cells/neurons overexpressing wt LRRK2, for each literature report. 帕金森病中 LRRK2的功能 朱飞舟 夏 昆 中南大学生物科学与技术学院生物化学系,中南大学生物科学与技术学院遗传学系, 中南大学医学遗传学国家重点实验室 An emerging role for LRRK2 in the immune system Figure 1 LRRK2 is a member of the RIPK family The RIPK branch of the TKL (tyrosine kinase-like) family of the human kinome demonstrates the relationship of LRRK1 and LRRK2 to other RIPK family members. RIPKs are known to play a number of roles in the immune system, including the regulation of programmed cell death, mediated by a RIP (receptor-interacting protein) 1–RIP3 complex and the inflammatory response to intracellular bacteria, mediated by RIP2. The domain structure of all RIPK family members is also shown. ANK, ankyrin repeat domain; CARD, caspase-recruitment domain; DD, death domain; ID, intermediate domain; LRR, leucine-rich repeat domain. Figure 2 Proposed roles for LRRK2 in immune signalling A number of roles have been proposed for LRRK2 in immune signalling. LRRK2 can act as a negative

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