请输入您要查询的百科知识：

　

词条 SGCE
释义

  1. See also

  2. References

  3. Further reading

  4. External links

{{Infobox_gene}}Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.[1][2][3]

The SGCE gene encodes the epsilon member of the sarcoglycan family, transmembrane components of the dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix.[supplied by OMIM][3]

See also

  • Myoclonic dystonia

References

1. ^{{cite journal | vauthors = McNally EM, Ly CT, Kunkel LM | title = Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene | journal = FEBS Lett | volume = 422 | issue = 1 | pages = 27–32 |date=Mar 1998 | pmid = 9475163 | pmc = | doi =10.1016/S0014-5793(97)01593-7 }}
2. ^{{cite journal | vauthors = Ettinger AJ, Feng G, Sanes JR | title = epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D | journal = J Biol Chem | volume = 272 | issue = 51 | pages = 32534–8 |date=Jan 1998 | pmid = 9405466 | pmc = | doi =10.1074/jbc.272.51.32534 }}
3. ^1 {{cite web | title = Entrez Gene: SGCE sarcoglycan, epsilon| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8910| accessdate = }}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Nygaard TG, Raymond D, Chen C, etal |title=Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. |journal=Ann. Neurol. |volume=46 |issue= 5 |pages= 794–8 |year= 1999 |pmid= 10554001 |doi=10.1002/1531-8249(199911)46:5<794::AID-ANA19>3.0.CO;2-2 }}
  • {{cite journal |vauthors=Barresi R, Moore SA, Stolle CA, etal |title=Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. |journal=J. Biol. Chem. |volume=275 |issue= 49 |pages= 38554–60 |year= 2001 |pmid= 10993904 |doi= 10.1074/jbc.M007799200 }}
  • {{cite journal |vauthors=Zimprich A, Grabowski M, Asmus F, etal |title=Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. |journal=Nat. Genet. |volume=29 |issue= 1 |pages= 66–9 |year= 2001 |pmid= 11528394 |doi= 10.1038/ng709 }}
  • {{cite journal | vauthors=Fanin M, Angelini C |title=Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes. |journal=Neuropathol. Appl. Neurobiol. |volume=28 |issue= 3 |pages= 190–9 |year= 2002 |pmid= 12060343 |doi=10.1046/j.1365-2990.2002.00389.x }}
  • {{cite journal |vauthors=Asmus F, Zimprich A, Tezenas Du Montcel S, etal |title=Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. |journal=Ann. Neurol. |volume=52 |issue= 4 |pages= 489–92 |year= 2002 |pmid= 12325078 |doi= 10.1002/ana.10325 }}
  • {{cite journal |vauthors=Klein C, Liu L, Doheny D, etal |title=Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. |journal=Ann. Neurol. |volume=52 |issue= 5 |pages= 675–9 |year= 2002 |pmid= 12402271 |doi= 10.1002/ana.10358 }}
  • {{cite journal |vauthors=Müller B, Hedrich K, Kock N, etal |title=Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. |journal=Am. J. Hum. Genet. |volume=71 |issue= 6 |pages= 1303–11 |year= 2003 |pmid= 12444570 |doi=10.1086/344531 | pmc=378568 }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
  • {{cite journal |vauthors=Smallwood A, Papageorghiou A, Nicolaides K, etal |title=Temporal regulation of the expression of syncytin (HERV-W), maternally imprinted PEG10, and SGCE in human placenta. |journal=Biol. Reprod. |volume=69 |issue= 1 |pages= 286–93 |year= 2004 |pmid= 12620933 |doi= 10.1095/biolreprod.102.013078 }}
  • {{cite journal |vauthors=Grabowski M, Zimprich A, Lorenz-Depiereux B, etal |title=The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. |journal=Eur. J. Hum. Genet. |volume=11 |issue= 2 |pages= 138–44 |year= 2003 |pmid= 12634861 |doi= 10.1038/sj.ejhg.5200938 }}
  • {{cite journal |vauthors=Maréchal L, Raux G, Dumanchin C, etal |title=Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. |journal=Am. J. Med. Genet. B Neuropsychiatr. Genet. |volume=119 |issue= 1 |pages= 114–7 |year= 2004 |pmid= 12707948 |doi= 10.1002/ajmg.b.10062 }}
  • {{cite journal |vauthors=Foncke EM, Klein C, Koelman JH, etal |title=Hereditary myoclonus-dystonia associated with epilepsy. |journal=Neurology |volume=60 |issue= 12 |pages= 1988–90 |year= 2004 |pmid= 12821748 |doi= 10.1212/01.wnl.0000066020.99191.76}}
  • {{cite journal |vauthors=Hillier LW, Fulton RS, Fulton LA, etal |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }}
  • {{cite journal |vauthors=Clark HF, Gurney AL, Abaya E, etal |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 | pmc=403697 }}
  • {{cite journal |vauthors=Kock N, Kasten M, Schüle B, etal |title=Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. |journal=Mov. Disord. |volume=19 |issue= 2 |pages= 231–4 |year= 2004 |pmid= 14978685 |doi= 10.1002/mds.10635 }}
  • {{cite journal | vauthors=Nishiyama A, Endo T, Takeda S, Imamura M |title=Identification and characterization of epsilon-sarcoglycans in the central nervous system. |journal=Brain Res. Mol. Brain Res. |volume=125 |issue= 1–2 |pages= 1–12 |year= 2004 |pmid= 15193417 |doi= 10.1016/j.molbrainres.2004.01.012 }}
  • {{cite journal |vauthors=Asmus F, Schoenian S, Lichtner P, etal |title=Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome. |journal=Neurogenetics |volume=6 |issue= 1 |pages= 55–6 |year= 2005 |pmid= 15627203 |doi= 10.1007/s10048-004-0206-z }}
  • {{cite journal |vauthors=Valente EM, Edwards MJ, Mir P, etal |title=The epsilon-sarcoglycan gene in myoclonic syndromes. |journal=Neurology |volume=64 |issue= 4 |pages= 737–9 |year= 2005 |pmid= 15728306 |doi= 10.1212/01.WNL.0000151979.68010.9B }}
{{refend}}

External links

  • [https://www.ncbi.nlm.nih.gov/books/NBK1414/ GeneReviews/NIH/NCBI/UW entry on Myoclonus-Dystonia]
  • LOVD mutation database: SGCE
{{Muscle tissue}}{{gene-7-stub}}
随便看

　

开放百科全书收录14589846条英语、德语、日语等多语种百科知识，基本涵盖了大多数领域的百科知识，是一部内容自由、开放的电子版国际百科全书。

　

Copyright © 2023 OENC.NET All Rights Reserved
京ICP备2021023879号 更新时间：2024/11/14 1:48:48