Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses

被引：0
|
作者：
Ni Sima
Rong Li
Wei Huang
Miao Xu
Jeanette Beers
Jizhong Zou
Steven Titus
Elizabeth A. Ottinger
Juan J. Marugan
Xing Xie
Wei Zheng
机构：
[1] National Institutes of Health,National Center for Advancing Translational Sciences
[2] Women’s Reproductive Health Laboratory of Zhejiang Province,Department of Gynecologic Oncology
[3] Women’s Hospital,iPSC core, National Heart
[4] School of Medicine,undefined
[5] Zhejiang University,undefined
[6] Lung and Blood Institute,undefined
[7] National Institutes of Health,undefined
来源：
Orphanet Journal of Rare Diseases | / 13卷
关键词：
Neuronal ceroid lipofuscinosis; INCL; LINCL; Lysosomal storage disease; Induced pluripotent stem cells; Neural stem cells; Enzyme replacement therapy; Cyclodextrin; δ-tocopherol;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [31] A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis
    Awano, Tomoyuki
    Katz, Martin L.
    O'Brien, Dennis P.
    Sohar, Istvan
    Lobel, Peter
    Coates, Joan R.
    Khan, Shahnawaz
    Johnson, Gayle C.
    Giger, Urs
    Johnson, Gary S.
    MOLECULAR GENETICS AND METABOLISM, 2006, 89 (03) : 254 - 260
  • [32] VALPROIC ACID EXTENDS LIFESPAN OF THE ZEBRAFISH MODEL OF CLN2 DISEASE (LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS)
    Mahmood, Fahad
    Zdebik, Anselm
    Au, Alexandra
    Cooke, Jennifer
    Russell, Claire
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2015, 86 (11):
  • [33] First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis
    de Vries, BBA
    Kleijer, WJ
    Keulemans, JLM
    Voznyi, YV
    Franken, PF
    Eurlings, MCM
    Galjaard, RJ
    Losekoot, M
    Catsman-Berrevoets, CE
    Breuning, MH
    Taschner, PEM
    van Diggelen, OP
    PRENATAL DIAGNOSIS, 1999, 19 (06) : 559 - 562
  • [34] CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease)
    S. L. Eaton
    C. Proudfoot
    S. G. Lillico
    P. Skehel
    R. A. Kline
    K. Hamer
    N. M. Rzechorzek
    E. Clutton
    R. Gregson
    T. King
    C. A. O’Neill
    J. D. Cooper
    G. Thompson
    C. B. Whitelaw
    T. M. Wishart
    Scientific Reports, 9
  • [35] CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease)
    Eaton, S. L.
    Proudfoot, C.
    Lillico, S. G.
    Skehe, P.
    Kline, R. A.
    Hamer, K.
    Rzechorzek, N. M.
    Clutton, E.
    Gregson, R.
    King, T.
    O'Neill, C. A.
    Cooper, J. D.
    Thompson, G.
    Whitelaw, C. B.
    Wishart, T. M.
    SCIENTIFIC REPORTS, 2019, 9 (1)
  • [36] Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease)
    Dyke, J. P.
    Sondhi, D.
    Voss, H. U.
    Yohay, K.
    Hollmann, C.
    Mancenido, D.
    Kaminsky, S. M.
    Heier, L. A.
    Rudser, K. D.
    Kosofsky, B.
    Casey, B. J.
    Crystal, R. G.
    Balton, D.
    AMERICAN JOURNAL OF NEURORADIOLOGY, 2016, 37 (06) : 1160 - 1169
  • [37] DNA-BASED PRENATAL-DIAGNOSIS OF THE INFANTILE FORM OF NEURONAL CEROID LIPOFUSCINOSIS (INCL, CLN1)
    JARVELA, I
    RAPOLA, J
    PELTONEN, L
    PUHAKKA, L
    VESA, J
    AMMALA, P
    SALONEN, R
    RYYNANEN, M
    HARING, P
    MUSTONEN, A
    SANTAVUORI, P
    PRENATAL DIAGNOSIS, 1991, 11 (05) : 323 - 328
  • [38] A Novel c.776_777insA Mutation in CLN1 Leads to Infantile Neuronal Ceroid Lipofuscinosis
    Miller, Jake N.
    Pearce, David A.
    JOURNAL OF CHILD NEUROLOGY, 2013, 28 (09) : 1106 - 1111
  • [39] EXCLUSION MAPPING OF CLASSICAL LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS (JANSKY-BIELSCHOWSKY DISEASE, CLN2)
    SHARP, JD
    WHEELER, RB
    SAVUKOSKI, M
    KESTILA, M
    JARVELA, IE
    PELTONEN, L
    EIBERG, H
    GARDINER, RM
    WILLIAMS, R
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1995, 3 (05) : 326 - 328
  • [40] Combination dosing of CLN1 gene therapy extends lifespan in a mouse model of infantile neuronal ceroid lipofuscinosis
    Rozenberg, Alejandra J.
    Lykken, Erik
    Spratt, Kaye
    Miller, Timothy J.
    Gray, Steven J.
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S124 - S124
12345