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SERPINI1
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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
SERPINI1
gene.
Belorgey D, Crowther DC, Mahadeva R, Lomas DA. Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro. J Biol Chem. 2002 May 10;277(19):17367-73. Epub 2002 Mar 5.
PubMed citation
Belorgey D, Sharp LK, Crowther DC, Onda M, Johansson J, Lomas DA. Neuroserpin Portland (Ser52Arg) is trapped as an inactive intermediate that rapidly forms polymers: implications for the epilepsy seen in the dementia FENIB. Eur J Biochem. 2004 Aug;271(16):3360-7.
PubMed citation
Coutelier M, Andries S, Ghariani S, Dan B, Duyckaerts C, van Rijckevorsel K, Raftopoulos C, Deconinck N, Sonderegger P, Scaravilli F, Vikkula M, Godfraind C. Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep. Neurology. 2008 Jul 1;71(1):64-6. doi: 10.1212/01.wnl.0000316306.08751.28.
PubMed citation
Davis RL, Holohan PD, Shrimpton AE, Tatum AH, Daucher J, Collins GH, Todd R, Bradshaw C, Kent P, Feiglin D, Rosenbaum A, Yerby MS, Shaw CM, Lacbawan F, Lawrence DA. Familial encephalopathy with neuroserpin inclusion bodies. Am J Pathol. 1999 Dec;155(6):1901-13.
PubMed citation
Davis RL, Shrimpton AE, Holohan PD, Bradshaw C, Feiglin D, Collins GH, Sonderegger P, Kinter J, Becker LM, Lacbawan F, Krasnewich D, Muenke M, Lawrence DA, Yerby MS, Shaw CM, Gooptu B, Elliott PR, Finch JT, Carrell RW, Lomas DA. Familial dementia caused by polymerization of mutant neuroserpin. Nature. 1999 Sep 23;401(6751):376-9.
PubMed citation
Entrez
Gene
Galliciotti G, Glatzel M, Kinter J, Kozlov SV, Cinelli P, Rülicke T, Sonderegger P. Accumulation of mutant neuroserpin precedes development of clinical symptoms in familial encephalopathy with neuroserpin inclusion bodies. Am J Pathol. 2007 Apr;170(4):1305-13.
PubMed citation
Galliciotti G, Sonderegger P. Neuroserpin. Front Biosci. 2006 Jan 1;11:33-45. Review.
PubMed citation
Miranda E, Lomas DA. Neuroserpin: a serpin to think about. Cell Mol Life Sci. 2006 Mar;63(6):709-22. Review.
PubMed citation
Miranda E, MacLeod I, Davies MJ, Pérez J, Römisch K, Crowther DC, Lomas DA. The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB. Hum Mol Genet. 2008 Jun 1;17(11):1527-39. doi: 10.1093/hmg/ddn041. Epub 2008 Feb 11.
PubMed citation
Miranda E, Römisch K, Lomas DA. Mutants of neuroserpin that cause dementia accumulate as polymers within the endoplasmic reticulum. J Biol Chem. 2004 Jul 2;279(27):28283-91. Epub 2004 Apr 16.
PubMed citation
Onda M, Belorgey D, Sharp LK, Lomas DA. Latent S49P neuroserpin forms polymers in the dementia familial encephalopathy with neuroserpin inclusion bodies. J Biol Chem. 2005 Apr 8;280(14):13735-41. Epub 2005 Jan 21.
PubMed citation
Yepes M, Lawrence DA. Neuroserpin: a selective inhibitor of tissue-type plasminogen activator in the central nervous system. Thromb Haemost. 2004 Mar;91(3):457-64. Review.
PubMed citation
Reviewed: April 2009
Published: May 20, 2013
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