A SQSTM1 POLYMORPHISM CONFERS RISK FOR SPORADIC INCLUSION BODY MYOSITIS DISEASE EXPRESSION

被引:0
|
作者
Pytte, Julia [1 ,3 ]
Van Loenhout, Maria [3 ]
Mastaglia, Frank [2 ]
James, Ian [3 ]
Flynn, Loren L. [2 ,3 ]
MacDougall, Gabriella [1 ]
Beer, Kelly [3 ]
Coudert, Jerome [3 ]
Sooda, Anu [3 ]
Akkari, P. Anthony [1 ,2 ,3 ,4 ,5 ]
Needham, Merilee [3 ]
机构
[1] UWA, Crawley, Australia
[2] Perron Inst, Nedlands, WA, Australia
[3] Murdoch Univ, Murdoch, WA, Australia
[4] Duke Univ, Durham, NC USA
[5] Black Swan Pharmaceut, Durham, NC USA
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P-8
引用
收藏
页码:438 / 438
页数:1
相关论文
共 50 条
  • [1] Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis
    Gang, Qiang
    Bettencourt, Conceicao
    Machado, Pedro M.
    Brady, Stefen
    Holton, Janice L.
    Pittman, Alan M.
    Hughes, Deborah
    Healy, Estelle
    Parton, Matthew
    Hilton-Jones, David
    Shieh, Perry B.
    Needham, Merrilee
    Liang, Christina
    Zanoteli, Edmar
    de Camargo, Leonardo Valente
    De Paepe, Boel
    De Bleecker, Jan
    Shaibani, Aziz
    Ripolone, Michela
    Violano, Raffaella
    Moggio, Maurizio
    Barohn, Richard J.
    Dimachkie, Mazen M.
    Mora, Marina
    Mantegazza, Renato
    Zanotti, Simona
    Singleton, Andrew B.
    Hanna, Michael G.
    Houlden, Henry
    NEUROBIOLOGY OF AGING, 2016, 47 : 218.e1 - 218.e9
  • [2] The role of p62/SQSTM1 in sporadic inclusion body myositis
    Nakano, Satoshi
    Oki, Mitsuaki
    Kusaka, Hirofumi
    NEUROMUSCULAR DISORDERS, 2017, 27 (04) : 363 - 369
  • [3] The E274D Variant of p62/SQSTM1 Increases the Risk of Sporadic Inclusion Body Myositis
    Margeta, Marta
    Cotter, Jennifer
    Wang, Xianhong
    Djordjevic, Natasa
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2017, 76 (06): : 495 - 495
  • [4] SQSTM1 AND VCP MUTATIONS IN A SERIES OF 205 INCLUSION BODY MYOSITIS CASES
    Gang, Q.
    Bettencourt, C.
    Brady, S.
    Holton, J. L.
    Pittman, A. M.
    Hughes, D.
    Healy, E.
    Parton, M.
    Hilton-Jones, D.
    Shieh, P. B.
    Needham, M.
    Liang, C.
    Zanoteli, E.
    Valente de Camargo, L.
    De Paepe, B.
    De Bleecker, J.
    Shaibani, A.
    Ripolone, M.
    Violano, R.
    Moggio, M.
    Barohn, R. J.
    Dimachkie, M. M.
    Mora, M.
    Mantegazza, R.
    Zanotti, S.
    Singleton, A. B.
    Hanna, M. G.
    Houlden, H.
    Machado, P. M.
    MUSCLE & NERVE, 2015, 52 : S2 - S2
  • [5] Using whole-exome sequencing to identify mutations of SQSTM1 and VCP in inclusion body myositis
    Gang, Q.
    Machado, P.
    Bettencourt, C.
    Brady, S.
    Healy, E.
    Parton, M.
    Holton, J. L.
    Hilton-Jones, D.
    Hanna, M. G.
    Houlden, H.
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2015, 41 : 44 - 44
  • [6] McArdle disease and sporadic inclusion body myositis
    Scarpelli, M.
    Vattemi, G.
    Filosto, M.
    Krause, S.
    Marini, M.
    Tomelleri, G.
    Tonin, P.
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2009, 35 (04) : 442 - 445
  • [7] Update on sporadic inclusion body myositis
    Hohlfeld, Reinhard
    BRAIN, 2011, 134 : 3141 - 3145
  • [8] Sporadic inclusion body myositis - a myodegenerative disease or an inflammatory myopathy
    Weihl, C. C.
    Mammen, A. L.
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2017, 43 (01) : 82 - 91
  • [9] β-catenin in sporadic inclusion body myositis
    Shim, C. Y.
    Bettolo, C. Marini
    Singh, P.
    Rakowicz, W.
    Lane, R. J.
    Roncaroli, F.
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2013, 39 : 35 - 36
  • [10] Sporadic Inclusion Body Myositis: An Acquired Mitochondrial Disease with Extras
    De Paepe, Boel
    BIOMOLECULES, 2019, 9 (01):