MeCP2 mutations: progress towards understanding and treating Rett syndrome

被引：54
|
作者：
Shah, Ruth R. [1 ]
Bird, Adrian P. [1 ]
机构：
[1] Univ Edinburgh, Wellcome Trust Ctr Cell Biol, Max Born Crescent, Edinburgh EH16 5DS, Midlothian, Scotland
来源：
GENOME MEDICINE | 2017年 / 9卷
基金：
英国惠康基金;
关键词：
SEVERITY;
D O I：
10.1186/s13073-017-0411-7
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain.
引用
收藏
页数：4
相关论文
共 50 条
  • [1] MeCP2 mutations: progress towards understanding and treating Rett syndrome
    Ruth R. Shah
    Adrian P. Bird
    Genome Medicine, 9
  • [2] Spectrum of MECP2 mutations in Rett syndrome
    Bienvenu, T
    Villard, L
    De Roux, N
    Bourdon, V
    Fontes, M
    Beldjord, C
    Tardieu, M
    Jonveaux, P
    Chelly, J
    GENETIC TESTING, 2002, 6 (01): : 1 - 6
  • [3] Mutations of the MECP2 gene in Rett syndrome
    Hampson, K
    Latif, F
    Woods, CG
    Webb, T
    JOURNAL OF MEDICAL GENETICS, 2000, 37 : S73 - S73
  • [4] Spectrum of MECP2 mutations in Rett syndrome
    Lee, SSJ
    Wan, MM
    Francke, U
    BRAIN & DEVELOPMENT, 2001, 23 : S138 - S143
  • [5] MECP2 mutations in Swedish Rett syndrome clusters
    Xiang, FQ
    Stenbom, Y
    Anvret, M
    CLINICAL GENETICS, 2002, 61 (05) : 384 - 385
  • [6] MECP2 Mutations in People Without Rett Syndrome
    Suter, B.
    Treadwell-Dearing, D.
    Zoghbi, H.
    Glaze, D.
    Neul, J. L.
    ANNALS OF NEUROLOGY, 2010, 68 (04) : S98 - S99
  • [7] MeCP2 mutations and gastrointestinal phenotype in Rett Syndrome
    Bibat, G
    Cuffari, C
    Naidu, S
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 272 - 272
  • [8] MECP2 mutations in Malaysian Rett syndrome patients
    Fong, C. B.
    Thong, M. K.
    Sam, C. K.
    Noor, Mohamed M. N.
    Ariffin, R.
    SINGAPORE MEDICAL JOURNAL, 2009, 50 (05) : 529 - 533
  • [9] MECP2 mutations in Serbian Rett syndrome patients
    Djarmati, A.
    Dobricic, V.
    Kecmanovic, M.
    Marsh, P.
    Jancic-Stefanovic, J.
    Klein, C.
    Djuric, M.
    Romac, S.
    ACTA NEUROLOGICA SCANDINAVICA, 2007, 116 (06): : 413 - 419
  • [10] Rett Syndrome and MeCP2
    Liyanage, Vichithra R. B.
    Rastegar, Mojgan
    NEUROMOLECULAR MEDICINE, 2014, 16 (02) : 231 - 264
12345