期刊文献+

Periaxin与腓骨肌萎缩症4F亚型 被引量:1

Periaxin and Charcot-Marie-Tooth Disease Subtype 4F
下载PDF
导出
摘要 Periaxin是施万细胞特异表达的一种蛋白,在维持髓鞘稳定性方面起重要作用,该基因突变将导致脱髓鞘型常染色体隐性遗传的腓骨肌萎缩症4F亚型发生。从分子遗传学角度探讨腓骨肌萎缩症4F亚型发病的机制已成为目前研究的热点。从periaxin的分布、结构与功能开展研究,寻找与其相互作用的蛋白质并揭示其互作的生物学意义,从蛋白质水平上研究腓骨肌萎缩症的发病机制具有重要意义。 Periaxin is expressed by myelinating Schwann cells ,which plays an essential role in stabiliza-tion of the myeline sheath.Periaxin mutations cause autosomal recessive,demyelination neuropathy,Charcot-Marie-Tooth 4F(CMT4F) subtype.Molecular genetics mechanism of CMT4F subtype has been one of the hot spots in the research field.The study of periaxin distribution,structures and functions,finding the interacting proteins with periaxin will reveal its biological function ,and lay the foundation for the research of CMT patho-genesis on the protein level.
出处 《医学综述》 2015年第8期1356-1358,共3页 Medical Recapitulate
基金 国家自然科学基金(31170748)
关键词 腓骨肌萎缩症4F亚型 Periaxin 结构 功能 Charcot-Marie-Tooth disease 4F Periaxin Structure Function
  • 相关文献

参考文献25

二级参考文献83

  • 1张如旭,唐北沙,资晓宏,罗巍,夏昆,潘乾,龙志高,胡正茂,李小波.腓骨肌萎缩症GDAP1基因突变分析[J].中华医学遗传学杂志,2004,21(3):207-210. 被引量:21
  • 2张如旭,罗巍,资晓宏,夏昆,蔡芳,萧剑峰,赵国华,张付峰,沈潞,江泓,唐北沙.中国汉族人群腓骨肌萎缩症Cx32基因突变分析(英文)[J].北京大学学报(医学版),2005,37(1):68-71. 被引量:5
  • 3刘小民,唐北沙,赵国华,夏昆,张付峰,潘乾,蔡芳,胡正茂,张成,陈彪,沈璐,张如旭,江泓.中国人腓骨肌萎缩症小热休克蛋白27基因突变分析[J].中华医学遗传学杂志,2005,22(5):510-513. 被引量:16
  • 4Saifi GM,Szigeti K,Snipes GJ,et al.Molecular mechanisms, diagnosis,and rational approaches to management of and therapy for Charcot Marie Tooth disease and related peripheral neuropathies[J]. Investig Med,2003,51:261-283.
  • 5Giambonini-Brugnoli G,Buchstaller J,Sommer L,et al.Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation[J].Neurobiol Dis,2005,18:656-668.
  • 6Sereda MW,Nave KA.Animal models of Charcot-marie-tooth disease type 1A[J].Neuromolecular Med,2006,8:205-216.
  • 7William J,Triggs MD,Robert H,et al.Case 18-2006:A 57- year-old woman with numbness and weakness of the feet and legs [J].New England Journal of Medicine,2006,354: 2584-2592.
  • 8Runker AE,Kobsar I,Fink T,et al.Pathology of a mouse mutation in peripheral myelin protein PO is characteristic of a severe and early onset form of human Charcot-Marie- Tooth type 1B disorder[J].Cell Biol,2004,165:565-573.
  • 9Street VA,Bennett CL,Goldy JD,et al.Mutation of a putative protein degradation gene LITA/SIMPLE in Charcot-Marie- Tooth disease 1C[J].Neurology,2003,60:22-26.
  • 10Kovach MJ,Campbell KC,Herman K,et al.Anticipation in a unique family with Charcot Marie Tooth syndrome and deafness: delineation of the clinical features and review of the literature[J].Am J Med Genet,2002,108:295-303.

共引文献20

引证文献1

二级引证文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部