HSPB1 LOSS OF CHAPERONE ACTIVITY: A NOVEL PATHOMECHANISM LINKED TO MOTOR NEURON DISEASE

被引:0
|
作者
Capponi, S. [1 ,2 ]
Geuens, T. [2 ]
Geroldi, A. [1 ]
Cichero, E. [3 ]
Origone, P. [1 ,4 ]
Verdiani, S. [5 ]
Adriaenssens, E. [2 ]
De Winter, V [2 ]
Fossa, P. [3 ]
Mandich, P. [1 ,4 ]
Bellone, E. [1 ,4 ]
Timmerman, V [2 ]
机构
[1] Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Med Genet Sect, Genoa, Italy
[2] Univ Antwerp, Peripheral Neuropathy Grp, VIB Dept Mol Genet, B-2020 Antwerp, Belgium
[3] Univ Genoa, Dept Pharmacol, Genoa, Italy
[4] Ist Nazl Ric Canc, COU Med Genet, IRCCS AOU San Martino 1ST, I-16132 Genoa, Italy
[5] Univ Genoa, Dept Hlth Sci, Genoa, Italy
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:112 / 112
页数:1
相关论文
共 50 条
  • [41] Human HSPB1 mutation recapitulates features of distal hereditary motor neuropathy (dHMN) in Drosophila
    Kang, Kyong-hwa
    Han, Ji Eun
    Hong, Young Bin
    Nam, Soo Hyun
    Choi, Byung-Ok
    Koh, Hyongjong
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2020, 521 (01) : 220 - 226
  • [42] Quantitative assessment of motor neuron loss in equine motor neuron disease (EMND)
    Polack, EW
    King, JM
    Cummings, JF
    De Lahunta, A
    Divers, TJ
    Mohammed, HO
    EQUINE VETERINARY JOURNAL, 1998, 30 (03) : 256 - 259
  • [43] A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype
    Luigetti, M.
    Fabrizi, G. M.
    Madia, F.
    Ferrarini, M.
    Conte, A.
    Del Grande, A.
    Tasca, G.
    Tonali, P. A.
    Sabatelli, M.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2010, 298 (1-2) : 114 - 117
  • [44] Characterization of the role of Hsp70 system and HspB1 on disaggregase activity in humans
    Goncalves, Conrado de Campos
    Young, Jason C.
    Ramos, Carlos H. I.
    Young, Jason C.
    PROTEIN SCIENCE, 2017, 26 : 32 - 33
  • [45] AKT-dependent HspB1 (hsp27) activity in epidermal differentiation
    O'Shaughnessy, Ryan F. L.
    Welti, Jonathan C.
    Cooke, James C.
    Avilion, Ariel A.
    Monks, Bobby
    Birnbaum, Morris J.
    Byrne, Carolyn
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2007, 282 (23) : 17297 - 17305
  • [46] Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series
    Katz, Matthew
    Davis, Mark
    Garton, Fleur C.
    Henderson, Robert
    Bharti, Vanda
    Wray, Naomi
    McCombe, Pamela
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2020, 413
  • [47] 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
  • [48] Regulation of stress-induced intracellular sorting and chaperone function of Hsp27 (HspB1) in mammalian cells
    Bryantsev, Anton L.
    Kurchashova, Svetlana Yu.
    Golyshev, Sergey A.
    Polyakov, Vladimir Yu.
    Wunderink, Herman F.
    Kanon, Bart
    Budagova, Karina R.
    Kabakov, Alexander E.
    Kampinga, Harm H.
    BIOCHEMICAL JOURNAL, 2007, 407 (407-417) : 407 - 417
  • [49] Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease
    Thomas Geuens
    Vicky De Winter
    Nicholas Rajan
    Tilmann Achsel
    Ligia Mateiu
    Leonardo Almeida-Souza
    Bob Asselbergh
    Delphine Bouhy
    Michaela Auer-Grumbach
    Claudia Bagni
    Vincent Timmerman
    Acta Neuropathologica Communications, 5
  • [50] Autosomal dominant distal hereditary motor neuropathy type II: a Korean family without sequence variation in HSPB1 and HSPB8
    Lee, Sang-Soo
    Moon, So-Young
    Kim, Ji-Seon
    Ki, Chang-Seok
    NEUROLOGY ASIA, 2012, 17 (03) : 235 - 237