Two distal hereditary motor neuropathy families with mutation of HSPB8 or HSPB1

被引：0
|
作者：
Choi, B-O.
Jung, H-K.
Hyun, J. W.
Kim, S-H.
Kim, Y. J.
Park, J. H.
Chung, K. W.
机构：
[1] Ewha Womans Univ, Seoul, South Korea
[2] Kongju Natl Univ, Gongju, South Korea
来源：
JOURNAL OF NEUROLOGY | 2012年 / 259卷
关键词：
D O I：
暂无
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：S120 / S121
页数：2
相关论文
共 50 条
  • [21] HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients
    Capponi, Simona
    Geroldi, Alessandro
    Fossa, Paola
    Grandis, Marina
    Ciotti, Paola
    Gulli, Rossella
    Schenone, Angelo
    Mandich, Paola
    Bellone, Emilia
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2011, 16 (04) : 287 - 294
  • [22] A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8
    Delphine Bouhy
    Manisha Juneja
    Istvan Katona
    Anne Holmgren
    Bob Asselbergh
    Vicky De Winter
    Tino Hochepied
    Steven Goossens
    Jody J. Haigh
    Claude Libert
    Chantal Ceuterick-de Groote
    Joy Irobi
    Joachim Weis
    Vincent Timmerman
    Acta Neuropathologica, 2018, 135 : 131 - 148
  • [23] Neuropathology of a human autopsy of HSPB1 distal hereditary motor neuropathy-dHMN (p.Ser135Phe) and transgenic mice with mutant/wild-type HSPB1 overexpression
    Phadke, R.
    Rossor, A. M.
    Benoy, V.
    Kalmar, B.
    King, R. M. H.
    Greensmith, L.
    Bosch, L. V. D.
    Reilly, M. M.
    Houlden, H.
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2016, 42 : 25 - 26
  • [24] Changes in Small Heat Shock Proteins HSPB1, HSPB5 and HSPB8 in Mitochondria of the Failing Heart Following Myocardial Infarction in Rats
    Marunouchi, Tetsuro
    Abe, Yohei
    Murata, Mao
    Inomata, Satomi
    Sanbe, Atsushi
    Takagi, Norio
    Tanonaka, Kouichi
    BIOLOGICAL & PHARMACEUTICAL BULLETIN, 2013, 36 (04) : 529 - 539
  • [25] Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients
    Irobi, Joy
    Holmgren, Anne
    De Winter, Vicky
    Asselbergh, Bob
    Gettemans, Jan
    Adriaensen, Dirk
    Ceuterick-de Groote, Chantal
    Van Coster, Rudy
    De Jonghe, Peter
    Timmerman, Vincent
    NEUROMUSCULAR DISORDERS, 2012, 22 (08) : 699 - 711
  • [26] The Role of the Arginine in the Conserved N-Terminal Domain RLFDQxFG Motif of Human Small Heat Shock Proteins HspB1, HspB4, HspB5, HspB6, and HspB8
    Shatov, Vladislav M.
    Weeks, Stephen D.
    Strelkov, Sergei V.
    Gusev, Nikolai B.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2018, 19 (07)
  • [27] Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy (vol 86, pg 391, 2016)
    Ghaoui, R.
    NEUROLOGY, 2016, 86 (11) : 1077 - 1077
  • [28] Protective effect of geranylgeranylacetone via enhanced induction of HSPB1 and HSPB8 in mitochondria of the failing heart following myocardial infarction in rats
    Marunouchi, Tetsuro
    Inomata, Satomi
    Sanbe, Atsushi
    Takagi, Norio
    Tanonaka, Kouichi
    EUROPEAN JOURNAL OF PHARMACOLOGY, 2014, 730 : 140 - 147
  • [29] A novel mutation in HSPB8 causes dominant adult-onset axial and distal myopathy
    Echaniz-Laguna, A.
    Lomage, X.
    Lannes, B.
    Schneider, R.
    Bierry, G.
    Dondaine, N.
    Deleuze, J.
    Bohm, J.
    Thompson, J.
    Laporte, J.
    Biancalana, V.
    NEUROMUSCULAR DISORDERS, 2017, 27 : S120 - S120
  • [30] A KNOCK-IN/KNOCK-OUT MOUSE MODEL FOR SMALL HEAT SHOCK PROTEIN HSPB8 MIMICKING DISTAL HEREDITARY MOTOR NEUROPATHY AND MYOFIBRILLAR MYOPATHY
    Bouhy, D.
    Katona, I
    Juneja, M.
    Haidar, M.
    Holmgren, A.
    De Winter, V
    Irobi, J.
    Weis, J.
    Timmerman, V
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 (03) : 245 - 246
12345