Expression analysis in the peripheral nerve of the myotubularin-related 2 protein phosphatase, mutated in CMT4B1

被引：0
|
作者：
Previtali, SC
Zerega, B
Sherman, DL
Brophy, PJ
Dina, G
King, RHM
Salih, MM
Feltri, L
Quattrini, A
Wrabetz, A
Monaco, AP
Bolino, A
机构：
[1] Ist Sci San Raffaele, Neuropathol Unit, I-20132 Milan, Italy
[2] Ist Sci San Raffaele, DIBIT, I-20132 Milan, Italy
[3] Gaslini Inst, Mol Genet Lab, Genoa, Italy
[4] Dulbecco Telethon Inst, Genoa, Italy
[5] Univ Edinburgh, Dept Preclin Vet Sci, Edinburgh EH8 9YL, Midlothian, Scotland
[6] UCL Royal Free & Univ Coll, Sch Med, Dept Clin Neurosci, London, England
[7] King Saud Univ, Div Pediat Neurol, Riyadh, Saudi Arabia
[8] Univ Oxford, WTCHG, Oxford OX1 2JD, England
来源：
GLIA | 2003年
关键词：
D O I：
暂无
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
引用
收藏
页码：66 / 66
页数：1
相关论文
共 50 条
  • [1] Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve
    Previtali, SC
    Zerega, B
    Sherman, DL
    Brophy, PJ
    Dina, G
    King, RHM
    Salih, MM
    Feltri, L
    Quattrini, A
    Ravazzolo, R
    Wrabetz, L
    Monaco, AP
    Bolino, A
    HUMAN MOLECULAR GENETICS, 2003, 12 (14) : 1713 - 1723
  • [2] Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B
    Bolino, A
    Marigo, V
    Ferrera, F
    Loader, J
    Romio, L
    Leoni, A
    Di Duca, M
    Cinti, R
    Cecchi, C
    Feltri, ML
    Wrabetz, L
    Ravazzolo, R
    Monaco, AP
    GENE, 2002, 283 (1-2) : 17 - 26
  • [3] Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1
    Berger, P
    Bonneick, S
    Willi, S
    Wymann, M
    Suter, U
    HUMAN MOLECULAR GENETICS, 2002, 11 (13) : 1569 - 1579
  • [4] Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2
    Berger, P
    Berger, I
    Schaffitzel, C
    Tersar, K
    Volkmer, B
    Suter, U
    HUMAN MOLECULAR GENETICS, 2006, 15 (04) : 569 - 579
  • [5] Expression, purification, crystallization and preliminary crystallographic analysis of human myotubularin-related protein 3
    Son, Ji Young
    Lee, Jee Un
    Yoo, Ki-Young
    Shin, Woori
    Im, Dong-Won
    Kim, Seung Jun
    Ryu, Seong Eon
    Heo, Yong-Seok
    ACTA CRYSTALLOGRAPHICA SECTION F-STRUCTURAL BIOLOGY COMMUNICATIONS, 2014, 70 : 1240 - 1243
  • [6] Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice
    Robinson, Fred L.
    Niesman, Ingrid R.
    Beiswenger, Kristina K.
    Dixon, Jack E.
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (12) : 4916 - 4921
  • [7] Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells
    Srivastava, Shekhar
    Ko, Kyung
    Choudhury, Papiya
    Li, Zhai
    Johnson, Amanda K.
    Nadkarni, Vivek
    Unutmaz, Derya
    Coetzee, William A.
    Skolnik, Edward Y.
    MOLECULAR AND CELLULAR BIOLOGY, 2006, 26 (15) : 5595 - 5602
  • [8] Crystallization and preliminary X-ray crystallographic analysis of human myotubularin-related protein 1
    Bong, Seoung Min
    Yang, Seung Won
    Choi, Ji-Woong
    Kim, Seung Jun
    Lee, Byung Il
    ACTA CRYSTALLOGRAPHICA SECTION F-STRUCTURAL BIOLOGY COMMUNICATIONS, 2015, 71 : 261 - 265
  • [9] Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13
    Bertini, Alessandro
    Reilly, Mary M.
    Pisciotta, Chiara
    Previtali, Stefano C.
    Parman, Yesim
    Battaloglu, Esra
    Laura, Matilde
    Blake, Julian
    Sacconi, Sabrina
    Attarian, Shahram
    Stojkovic, Tanya
    Bellatache, Mounia
    Nouioua, Sonia
    Tazir, Meriem
    Cakar, Arman
    Gambardella, Antonio
    Valentino, Paola
    Lewis, Richard A.
    Horvath, Rita
    Zambon, Alberto A.
    Sabatelli, Mario
    Luigetti, Marco
    Tozza, Stefano
    Manganelli, Fiore
    Herrmann, David N.
    Scherer, Steven S.
    Kressin, Nicole
    Ward, Kailee
    Bolino, Alessandra
    Shy, Michael E.
    Pareyson, Davide
    EUROPEAN JOURNAL OF NEUROLOGY, 2025, 32 (02)
  • [10] Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
    Alessandra Bolino
    Maria Muglia
    Francesca Luisa Conforti
    Eric LeGuern
    Mustafa A.M. Salih
    Domna-Maria Georgiou
    Kyproula Christodoulou
    Irena Hausmanowa-Petrusewicz
    Paola Mandich
    Angelo Schenone
    Antonio Gambardella
    Franco Bono
    Aldo Quattrone
    Marcella Devoto
    Anthony P. Monaco
    Nature Genetics, 2000, 25 : 17 - 19
12345