DEFECTIVE BIOSYNTHESIS OF PROTEOLIPID PROTEIN IN PELIZAEUS-MERZBACHER DISEASE

被引：79
|
作者：
KOEPPEN, AH [1 ]
RONCA, NA [1 ]
GREENFIELD, EA [1 ]
HANS, MB [1 ]
机构：
[1] UNION UNIV ALBANY MED COLL,DEPT NEUROL,ALBANY,NY 12208
来源：
ANNALS OF NEUROLOGY | 1987年 / 21卷 / 02期
关键词：
D O I：
10.1002/ana.410210208
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：159 / 170
页数：12
相关论文
共 50 条
  • [1] A brief history of Pelizaeus-Merzbacher disease and proteolipid protein
    Koeppen, AH
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2005, 228 (02) : 198 - 200
  • [2] Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease
    Elitt, Matthew S.
    Barbar, Lilianne
    Shick, H. Elizabeth
    Powers, Berit E.
    Maeno-Hikichi, Yuka
    Madhavan, Mayur
    Allan, Kevin C.
    Nawash, Baraa S.
    Gevorgyan, Artur S.
    Hung, Stevephen
    Nevin, Zachary S.
    Olsen, Hannah E.
    Hitomi, Midori
    Schlatzer, Daniela M.
    Zhao, Hien T.
    Swayze, Adam
    LePage, David F.
    Jiang, Weihong
    Conlon, Ronald A.
    Rigo, Frank
    Tesar, Paul J.
    NATURE, 2020, 585 (7825) : 397 - +
  • [3] Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease
    Koizume, S.
    Takizawa, S.
    Fujita, K.
    Aida, N.
    Yamashita, S.
    Miyagi, Y.
    Osaka, H.
    NEUROSCIENCE, 2006, 141 (04) : 1861 - 1869
  • [4] PROTEOLIPID PROTEIN GENE DOSAGE EFFECT IN PELIZAEUS-MERZBACHER DISEASE
    ELLIS, D
    MALCOLM, S
    NATURE GENETICS, 1994, 6 (04) : 333 - 334
  • [5] A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease
    Omata, Taku
    Nagai, Jun-ichi
    Shimbo, Hiroko
    Koizume, Shiro
    Miyagi, Yohei
    Kurosawa, Kenji
    Yamashita, Sumimasa
    Osaka, Hitoshi
    Inoue, Ken
    BRAIN & DEVELOPMENT, 2016, 38 (06): : 581 - 584
  • [6] Proteolipid protein gene - Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice
    Woodward, K
    Malcolm, S
    TRENDS IN GENETICS, 1999, 15 (04) : 125 - 128
  • [7] Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease
    Sistermans, EA
    de Coo, RFM
    De Wijs, IJ
    Van Oost, BA
    NEUROLOGY, 1998, 50 (06) : 1749 - 1754
  • [8] Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease
    Hobson, GM
    Davis, AP
    Stowell, NC
    Kolodny, EH
    Sistermans, EA
    de Coo, IFM
    Funanage, VL
    Marks, HG
    NEUROLOGY, 2000, 55 (08) : 1089 - 1096
  • [9] A new proteolipid lipoprotein mutation in Pelizaeus-Merzbacher disease
    Verhagen, WIM
    Huygen, PLM
    Smeets, HJM
    Renier, WO
    deWijs, I
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1997, 147 (02) : 215 - 216
  • [10] Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease
    Inoue, K
    Osaka, H
    Kawanishi, C
    Sugiyama, N
    Ishii, M
    Sugita, K
    Yamada, Y
    Kosaka, K
    NEUROLOGY, 1997, 48 (01) : 283 - 285
12345