Elucidating the Pathological Mechanisms of Neurodegeneration in the Lethal Serpinopathy FENIB

Overview

Journal Neural Regen Res

Date 2022 Jan 12

PMID 35017423

Authors

Elena Miranda

Giovanna Galliciotti

Affiliations

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References

Takasawa A, Kato I, Takasawa K, Ishii Y, Yoshida T, Shehata M . Mutation-, aging-, and gene dosage-dependent accumulation of neuroserpin (G392E) in endoplasmic reticula and lysosomes of neurons in transgenic mice. J Biol Chem. 2008; 283(51):35606-13. DOI: 10.1074/jbc.M804125200. View

Davis R, Shrimpton A, Holohan P, Bradshaw C, Feiglin D, Collins G . Familial dementia caused by polymerization of mutant neuroserpin. Nature. 1999; 401(6751):376-9. DOI: 10.1038/43894. View

Galliciotti G, Glatzel M, Kinter J, Kozlov S, Cinelli P, Rulicke T . Accumulation of mutant neuroserpin precedes development of clinical symptoms in familial encephalopathy with neuroserpin inclusion bodies. Am J Pathol. 2007; 170(4):1305-13. PMC: 1829463. DOI: 10.2353/ajpath.2007.060910. View

Davies M, Miranda E, Roussel B, Kaufman R, Marciniak S, Lomas D . Neuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response. J Biol Chem. 2009; 284(27):18202-9. PMC: 2709363. DOI: 10.1074/jbc.M109.010744. View

Guadagno N, Moriconi C, Licursi V, DAcunto E, Nisi P, Carucci N . Neuroserpin polymers cause oxidative stress in a neuronal model of the dementia FENIB. Neurobiol Dis. 2017; 103:32-44. PMC: 5439028. DOI: 10.1016/j.nbd.2017.03.010. View

Kroeger H, Miranda E, MacLeod I, Perez J, Crowther D, Marciniak S . Endoplasmic reticulum-associated degradation (ERAD) and autophagy cooperate to degrade polymerogenic mutant serpins. J Biol Chem. 2009; 284(34):22793-802. PMC: 2755687. DOI: 10.1074/jbc.M109.027102. View

M Greene C, Marciniak S, Teckman J, Ferrarotti I, Brantly M, Lomas D . α1-Antitrypsin deficiency. Nat Rev Dis Primers. 2016; 2:16051. DOI: 10.1038/nrdp.2016.51. View

Granell S, Baldini G, Mohammad S, Nicolin V, Narducci P, Storrie B . Sequestration of mutated alpha1-antitrypsin into inclusion bodies is a cell-protective mechanism to maintain endoplasmic reticulum function. Mol Biol Cell. 2007; 19(2):572-86. PMC: 2230602. DOI: 10.1091/mbc.e07-06-0587. View

Ingwersen T, Linnenberg C, DAcunto E, Temori S, Paolucci I, Wasilewski D . G392E neuroserpin causing the dementia FENIB is secreted from cells but is not synaptotoxic. Sci Rep. 2021; 11(1):8766. PMC: 8062559. DOI: 10.1038/s41598-021-88090-1. View

10.

Lee T, Tsang V, Birch N . Physiological and pathological roles of tissue plasminogen activator and its inhibitor neuroserpin in the nervous system. Front Cell Neurosci. 2015; 9:396. PMC: 4602146. DOI: 10.3389/fncel.2015.00396. View

11.

Miranda E, MacLeod I, Davies M, Perez J, Romisch K, Crowther D . The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB. Hum Mol Genet. 2008; 17(11):1527-39. PMC: 2387220. DOI: 10.1093/hmg/ddn041. View

12.

Schipanski A, Lange S, Segref A, Gutschmidt A, Lomas D, Miranda E . A novel interaction between aging and ER overload in a protein conformational dementia. Genetics. 2013; 193(3):865-76. PMC: 3584003. DOI: 10.1534/genetics.112.149088. View

13.

Schipanski A, Oberhauser F, Neumann M, Lange S, Szalay B, Krasemann S . Lectin OS-9 delivers mutant neuroserpin to endoplasmic reticulum associated degradation in familial encephalopathy with neuroserpin inclusion bodies. Neurobiol Aging. 2014; 35(10):2394-403. DOI: 10.1016/j.neurobiolaging.2014.04.002. View

14.

Reumann R, Vierk R, Zhou L, Gries F, Kraus V, Mienert J . The serine protease inhibitor neuroserpin is required for normal synaptic plasticity and regulates learning and social behavior. Learn Mem. 2017; 24(12):650-659. PMC: 5688962. DOI: 10.1101/lm.045864.117. View