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    SERPINI1 serpin family I member 1 [ Homo sapiens (human) ]

    Gene ID: 5274, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review.

    Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review.
    Yang X, Fang Z, Yan L, He X, Luo H, Han Z, Gui J, Cheng M, Jiang L.

    03/8/2023
    Detection of truncated isoforms of human neuroserpin lacking the reactive center loop: Implications in noninhibitory role.

    Detection of truncated isoforms of human neuroserpin lacking the reactive center loop: Implications in noninhibitory role.
    Fatima S, Ansari S, Bano S, Ahamad S, Ishqi HM, Tabish M, Gupta D, Rehman SU, Jairajpuri MA.

    02/12/2022
    Contrasting conformational dynamics of beta-sheet A and helix F with implications in neuroserpin inhibition and aggregation.

    Contrasting conformational dynamics of β-sheet A and helix F with implications in neuroserpin inhibition and aggregation.
    Ansari S, Ray A, Ali MF, Bano S, Jairajpuri MA.

    07/24/2021
    Neuroserpin in Bipolar Disorder.

    Neuroserpin in Bipolar Disorder.
    Çinar RK.

    01/9/2021
    Deficits in developmental neurogenesis and dendritic spine maturation in mice lacking the serine protease inhibitor neuroserpin.

    Deficits in developmental neurogenesis and dendritic spine maturation in mice lacking the serine protease inhibitor neuroserpin.
    Hermann M, Reumann R, Schostak K, Kement D, Gelderblom M, Bernreuther C, Frischknecht R, Schipanski A, Marik S, Krasemann S, Sepulveda-Falla D, Schweizer M, Magnus T, Glatzel M, Galliciotti G.

    11/21/2020
    Neuroserpin expression during human brain development and in adult brain revealed by immunohistochemistry and single cell RNA sequencing.

    Neuroserpin expression during human brain development and in adult brain revealed by immunohistochemistry and single cell RNA sequencing.
    Adorjan I, Tyler T, Bhaduri A, Demharter S, Finszter CK, Bako M, Sebok OM, Nowakowski TJ, Khodosevich K, Møllgård K, Kriegstein AR, Shi L, Hoerder-Suabedissen A, Ansorge O, Molnár Z., Free PMC Article

    09/12/2020
    We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation.

    SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
    Ranza E, Garcia-Tarodo S, Varvagiannis K, Guipponi M, Lobrinus JA, Bottani A, Kern I, Kurian M, Pittet MP, Antonarakis SE, Fluss J, Korff CM.

    12/2/2017
    Data indicated that rs9853967 and rs11714980 polymorphisms in CCM3 and SERPINI1respectively could be associated with a protective role in cerebral cavernous malformations disease.

    CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study.
    Scimone C, Bramanti P, Ruggeri A, Donato L, Alafaci C, Crisafulli C, Mucciardi M, Rinaldi C, Sidoti A, D'Angelo R., Free PMC Article

    05/6/2017
    SERPINI1 is an important regulator of epithelial-mesenchymal transition in an orthotopic implantation model of colorectal cancer

    SERPINI1 regulates epithelial-mesenchymal transition in an orthotopic implantation model of colorectal cancer.
    Matsuda Y, Miura K, Yamane J, Shima H, Fujibuchi W, Ishida K, Fujishima F, Ohnuma S, Sasaki H, Nagao M, Tanaka N, Satoh K, Naitoh T, Unno M., Free PMC Article

    02/18/2017
    The thermal and chemical stability along with the polymerisation propensity of both Wild Type and Glu289Ala NS were characterized.

    The stability and activity of human neuroserpin are modulated by a salt bridge that stabilises the reactive centre loop.
    Noto R, Randazzo L, Raccosta S, Caccia S, Moriconi C, Miranda E, Martorana V, Manno M., Free PMC Article

    09/17/2016
    This C-terminal lability is not required for neuroserpin polymerisation in the endoplasmic reticulum, but the additional glycan facilitates degradation of the mutant protein during proteasomal impairment.

    Interactions between N-linked glycosylation and polymerisation of neuroserpin within the endoplasmic reticulum.
    Moriconi C, Ordoñez A, Lupo G, Gooptu B, Irving JA, Noto R, Martorana V, Manno M, Timpano V, Guadagno NA, Dalton L, Marciniak SJ, Lomas DA, Miranda E., Free PMC Article

    06/11/2016
    the protective effect of neuroserpin maybe independent from its canonical interaction with a tissue-type plasminogen activator

    Retina Is Protected by Neuroserpin from Ischemic/Reperfusion-Induced Injury Independent of Tissue-Type Plasminogen Activator.
    Gu RP, Fu LL, Jiang CH, Xu YF, Wang X, Yu J., Free PMC Article

    04/23/2016
    Neuroserpin is expressed in naive effector memory and central memory CD4 and CD8 T cell subsets, and monocytes, B cells, and NK cells. T-cell activation caused its translocation to the immunologic synapse, secretion, and delayed downregulation.

    Human T cell activation induces synaptic translocation and alters expression of the serine protease inhibitor neuroserpin and its target protease.
    Lorenz N, Loef EJ, Verdon DJ, Chen CJ, Mansell CJ, Angel CE, Brooks AE, Dunbar PR, Birch NP.

    06/20/2015
    Molecular Dynamics simulations suggest that Neuroserpin conformational stability and flexibility arise from a spatial distribution of intramolecular salt-bridges and hydrogen bonds.

    Functional and dysfunctional conformers of human neuroserpin characterized by optical spectroscopies and Molecular Dynamics.
    Noto R, Santangelo MG, Levantino M, Cupane A, Mangione MR, Parisi D, Ricagno S, Bolognesi M, Manno M, Martorana V., Free PMC Article

    05/9/2015
    Alzheimer's disease brain tissues with elevated neuroserpin protein also showed increased expression of THRbeta1 and HuD

    Neuroserpin up-regulation in the Alzheimer's disease brain is associated with elevated thyroid hormone receptor-β1 and HuD expression.
    Subhadra B, Schaller K, Seeds NW., Free PMC Article

    06/7/2014
    our study did not provide any evidence for an association between genetic variation at the SERPINI1 locus and ischemic stroke

    No evidence for an association between genetic variation at the SERPINI1 locus and ischemic stroke.
    Tjärnlund-Wolf A, Olsson S, Jood K, Blomstrand C, Jern C.

    01/28/2012
    the origins of conformational lability

    Local conformational flexibility provides a basis for facile polymer formation in human neuroserpin.
    Sarkar A, Zhou C, Meklemburg R, Wintrode PL., Free PMC Article

    01/21/2012
    Neuroprotective properties of neuroserpin may be related to the inhibition of excitotoxicity, inflammation, as well as blood brain barrier disruption that occur after acute ischemic stroke.

    Association between neuroserpin and molecular markers of brain damage in patients with acute ischemic stroke.
    Rodríguez-González R, Sobrino T, Rodríguez-Yáñez M, Millán M, Brea D, Miranda E, Moldes O, Pérez J, Lomas DA, Leira R, Dávalos A, Castillo J., Free PMC Article

    09/17/2011
    Hrd1 and gp78 mediate mutant neuroserpin turnover through the ERAD pathway.

    The endoplasmic reticulum (ER)-associated degradation system regulates aggregation and degradation of mutant neuroserpin.
    Ying Z, Wang H, Fan H, Wang G., Free PMC Article

    08/6/2011
    high serum neuroserpin levels before intravenous tPA and neuroserpin levels decrease at 24 h after ischaemic stroke, independently of tPA treatment, may have a role in good functional outcome

    The natural tissue plasminogen activator inhibitor neuroserpin and acute ischaemic stroke outcome.
    Rodríguez-González R, Millán M, Sobrino T, Miranda E, Brea D, de la Ossa NP, Blanco M, Perez J, Dorado L, Castellanos M, Lomas DA, Moro MA, Dávalos A, Castillo J.

    06/25/2011
    The latent and polymer hNS forms obtained at 45 degrees C and 85 degrees C differ in their chemical and thermal stabilities; furthermore, the human neuroserpin polymers also differ in size and morphology

    Two latent and two hyperstable polymeric forms of human neuroserpin.
    Ricagno S, Pezzullo M, Barbiroli A, Manno M, Levantino M, Santangelo MG, Bonomi F, Bolognesi M., Free PMC Article

    03/5/2011
    investigated the refolding and polymerization pathways of wild-type neuroserpin and of the pathogenic mutants S49P and H338R

    Refolding and polymerization pathways of neuroserpin.
    Takehara S, Zhang J, Yang X, Takahashi N, Mikami B, Onda M.

    11/27/2010
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

    Polymorphisms in innate immunity genes and risk of childhood leukemia.
    Han S, Lan Q, Park AK, Lee KM, Park SK, Ahn HS, Shin HY, Kang HJ, Koo HH, Seo JJ, Choi JE, Ahn YO, Chanock SJ, Kim H, Rothman N, Kang D., Free PMC Article

    06/30/2010
    intracellular neuroserpin polymers activate NF-kappaB by a pathway that is independent of the IRE1, ATF6, and PERK limbs of the canonical unfolded protein response but is dependent on intracellular calcium

    Neuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response.
    Davies MJ, Miranda E, Roussel BD, Kaufman RJ, Marciniak SJ, Lomas DA., Free PMC Article

    01/21/2010
    Analyses restricted to glioblastoma (n = 254) yielded significant associations for the SELP, DEFB126/127, SERPINI1, and LY96 genetic regions.

    Common variation in genes related to innate immunity and risk of adult glioma.
    Rajaraman P, Brenner AV, Butler MA, Wang SS, Pfeiffer RM, Ruder AM, Linet MS, Yeager M, Wang Z, Orr N, Fine HA, Kwon D, Thomas G, Rothman N, Inskip PD, Chanock SJ., Free PMC Article

    01/21/2010
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