Literature DB >> 7488116

Cloning and characterization of seizure-related gene, SEZ-6.

K Shimizu-Nishikawa1, K Kajiwara, E Sugaya.   

Abstract

SEZ-6 is a brain-specific cDNA. Its expression is increased by convulsant drug and it encodes membrane protein with five copies of short consensus repeat (SCR; complement C3b/C4b binding site) and two repeated sequences which are partially similar to CUB domain (complement Clr/s-like repeat). In this study, we analyzed the gene product of SEZ-6 by antibody raised against SEZ-6 peptide. In vitro translation and immunoblot revealed that SEZ-6 protein is modified post-translationally and expressed in the cerebrum and the cerebellum. To analyze the SEZ-6 expression in detail, we searched for other types of SEZ-6 cDNA by the polymerase chain reaction. Two additional types of cDNAs were isolated and sequence analysis showed that one cDNA encodes membrane protein with a different C-terminal region and the other encodes secreted protein with two SCRs and one CUB-like domain.

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Year:  1995        PMID: 7488116     DOI: 10.1006/bbrc.1995.2635

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN: 0006-291X            Impact factor:   3.575


  10 in total

1.  Duplication 16p11.2 in a child with infantile seizure disorder.

Authors:  Jirair K Bedoyan; Ravinesh A Kumar; Jyotsna Sudi; Faye Silverstein; Todd Ackley; Ramaswamy K Iyer; Susan L Christian; Donna M Martin
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

2.  Structural characterization of the third scavenger receptor cysteine-rich domain of murine neurotrypsin.

Authors:  Anselmo Canciani; Gianluca Catucci; Federico Forneris
Journal:  Protein Sci       Date:  2019-03-06       Impact factor: 6.725

Review 3.  Synapse Formation and Function Across Species: Ancient Roles for CCP, CUB, and TSP-1 Structural Domains.

Authors:  Inés González-Calvo; Mélissa Cizeron; Jean-Louis Bessereau; Fekrije Selimi
Journal:  Front Neurosci       Date:  2022-04-25       Impact factor: 5.152

4.  Seizure-related gene 6 (Sez-6) in amacrine cells of the rodent retina and the consequence of gene deletion.

Authors:  Jenny M Gunnersen; Annabel Kuek; Joanna A Phipps; Vicki E Hammond; Theresa Puthussery; Erica L Fletcher; Seong-Seng Tan
Journal:  PLoS One       Date:  2009-08-07       Impact factor: 3.240

5.  A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features.

Authors:  Bobo Xie; Xin Fan; Yaqin Lei; Rongyu Chen; Jin Wang; Chunyun Fu; Shang Yi; Jingsi Luo; Shujie Zhang; Qi Yang; Shaoke Chen; Yiping Shen
Journal:  Mol Cytogenet       Date:  2016-05-31       Impact factor: 2.009

6.  Full-length sequence of mouse acupuncture-induced 1-L (aig1l) gene including its transcriptional start site.

Authors:  Mika Ohta; Aki Sugano; Shuji Goto; Surini Yusoff; Yushi Hirota; Kotaro Funakoshi; Kenji Miura; Eiichi Maeda; Nobuo Takaoka; Nobuko Sato; Hiroshi Ishizuka; Naoki Arizono; Hisahide Nishio; Yutaka Takaoka
Journal:  Evid Based Complement Alternat Med       Date:  2011-02-17       Impact factor: 2.629

7.  Association and mutation analyses of 16p11.2 autism candidate genes.

Authors:  Ravinesh A Kumar; Christian R Marshall; Judith A Badner; Timothy D Babatz; Zohar Mukamel; Kimberly A Aldinger; Jyotsna Sudi; Camille W Brune; Gerald Goh; Samer Karamohamed; James S Sutcliffe; Edwin H Cook; Daniel H Geschwind; William B Dobyns; Stephen W Scherer; Susan L Christian
Journal:  PLoS One       Date:  2009-02-26       Impact factor: 3.240

8.  Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a Southern Chinese Han population.

Authors:  Jianming Jiang; Xiaoling Chen; Wenting Liu; Yan Zhao; Yangtai Guan; Yan Han; Feng Wang; Jiajun Lu; Zhiliang Yu; Zhenfang Du; Xianning Zhang
Journal:  Neural Regen Res       Date:  2012-01-15       Impact factor: 5.135

Review 9.  Functions of the Alzheimer's Disease Protease BACE1 at the Synapse in the Central Nervous System.

Authors:  Kathryn M Munro; Amelia Nash; Martina Pigoni; Stefan F Lichtenthaler; Jenny M Gunnersen
Journal:  J Mol Neurosci       Date:  2016-07-25       Impact factor: 3.444

10.  Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.

Authors:  Lara Paracchini; Luca Beltrame; Lucia Boeri; Federica Fusco; Paolo Caffarra; Sergio Marchini; Diego Albani; Gianluigi Forloni
Journal:  Alzheimers Res Ther       Date:  2018-10-12       Impact factor: 6.982

  10 in total

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