Targeted genome editing of PMP22 TATA-box reduced PMP22 to therapeutic level in CMT1A patient derived iPSC-Schwann cells

被引:0
|
作者
Go, N. Y. [1 ]
Lee, K. I. [1 ]
Ahn, C. H. [1 ]
Lee, J. Y. [1 ]
机构
[1] ToolGen, Seoul, South Korea
关键词
D O I
暂无
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
P703
引用
收藏
页码:A289 / A290
页数:2
相关论文
共 48 条
  • [31] AAV-mediated editing of PMP22 rescues Charcot-Marie-Tooth disease type 1A features in patient-derived iPS Schwann cells
    Yuki Yoshioka
    Juliana Bosso Taniguchi
    Hidenori Homma
    Takuya Tamura
    Kyota Fujita
    Maiko Inotsume
    Kazuhiko Tagawa
    Kazuharu Misawa
    Naomichi Matsumoto
    Masanori Nakagawa
    Haruhisa Inoue
    Hikari Tanaka
    Hitoshi Okazawa
    Communications Medicine, 3
  • [32] SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
    Kishin Koh
    Ryusuke Takaki
    Hiroyuki Ishiura
    Shoji Tsuji
    Yoshihisa Takiyama
    BMC Neurology, 21
  • [33] SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
    Koh, Kishin
    Takaki, Ryusuke
    Ishiura, Hiroyuki
    Tsuji, Shoji
    Takiyama, Yoshihisa
    BMC NEUROLOGY, 2021, 21 (01)
  • [34] APOPTOTIC PHENOTYPE INDUCED BY OVEREXPRESSION OF WILD-TYPE GAS3/PMP22 - ITS RELATION TO THE DEMYELINATING PERIPHERAL NEUROPATHY CMT1A
    FABBRETTI, E
    EDOMI, P
    BRANCOLINI, C
    SCHNEIDER, C
    GENES & DEVELOPMENT, 1995, 9 (15) : 1846 - 1856
  • [35] Screening for mutations of PMP22, MPZ, EGR2, SCIPand EGR1in CMT patients without the CMT1A duplication or Cx32mutations.
    Boerkoel, CF
    Dalakishvili, K
    Lupski, JR
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A285 - A285
  • [36] Association of Charcot-Marie-Tooth disease type 1A (CMT1A) and multiple sclerosis (MS): PMP22 is an exclusive candidate for peripheral neuropathies.
    Rautenstrauss, B
    Liehr, T
    May-Wehof, U
    Moller, P
    Sertic, J
    Sostarko, M
    Grehl, H
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A319 - A319
  • [37] Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease
    Nobbio, L
    Vigo, T
    Abbruzzese, M
    Levi, G
    Brancolini, C
    Mantero, S
    Grandis, M
    Benedetti, L
    Mancardi, G
    Schenone, A
    NEUROBIOLOGY OF DISEASE, 2004, 16 (01) : 263 - 273
  • [38] Charcot-Marie-Tooth disease: Histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)
    Sander, S
    Nicholson, GA
    Ouvrier, RA
    McLeod, JG
    Pollard, JD
    MUSCLE & NERVE, 1998, 21 (02) : 217 - 225
  • [39] Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication
    Liu, Xing
    Ishikawa, Kei-ichi
    Hattori, Nobutaka
    Akamatsu, Wado
    STEM CELL RESEARCH, 2024, 77
  • [40] Gp78 regulates PMP22 and causes ER stress and autophagy in EV71-VP1-overexpressing mouse Schwann cells
    Zhu, Danping
    Liu, Guangming
    Feng, Kuan
    Li, Suyun
    Hu, Dandan
    Yang, Sida
    Li, Peiqing
    BIOCELL, 2024, 48 (04) : 653 - 664