Structural basis of domain destabilization by dilated-cardiomyopathy-causing missense mutations in titin

被引:0
|
作者
Martinez-Martin, Ines [1 ]
Crousilles, Audrey [2 ]
Herrero-Galan, Elias [1 ]
Velazquez-Carreras, Diana [1 ]
Mortensen, Simon A. [2 ]
Ochoa, Juan Pablo [1 ]
Garcia-Pavia, Pablo [1 ]
de Sancho, David [3 ]
Wilmanns, Matthias [2 ]
Alegre-Cebollada, Jorge [1 ]
机构
[1] Inst Salud Carlos III, Ctr Nacl Invest Cardiovasc Carlos III, Madrid, Spain
[2] European Mol Biol Lab Hamburg, Hamburg, Germany
[3] Donostia Int Phys Ctr, Donostia San Sebastian, Spain
关键词
D O I
暂无
中图分类号
Q6 [生物物理学];
学科分类号
071011 ;
摘要
841-Plat
引用
收藏
页码:172A / 172A
页数:1
相关论文
共 50 条
  • [41] Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain
    Suo-Bao Rong
    Mauno Vihinen
    Journal of Molecular Medicine, 2000, 78 : 530 - 537
  • [42] Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain
    Rong, SB
    Vihinen, M
    JOURNAL OF MOLECULAR MEDICINE-JMM, 2000, 78 (09): : 530 - 537
  • [43] Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B
    Lappalainen, I
    Vihinen, M
    PROTEIN ENGINEERING, 2002, 15 (12): : 1005 - 1014
  • [44] Structural analysis of missense mutations causing isolated sulfite oxidase deficiency
    Karakas, E
    Kisker, C
    DALTON TRANSACTIONS, 2005, (21) : 3459 - 3463
  • [45] Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy (vol 9, 4093, 2019)
    Akinrinade, Oyediran
    Helio, Tiina
    Deprez, Ronald H. Lekanne
    Jongbloed, Jan D. H.
    Boven, Ludolf G.
    van den Berg, Maarten P.
    Pinto, Yigal M.
    Alastalo, Tero-Pekka
    Myllykangas, Samuel
    van Spaendonck-Zwarts, Karin
    van Tintelen, J. Peter
    van der Zwaag, Paul A.
    Koskenvuo, Juha
    SCIENTIFIC REPORTS, 2020, 10 (01)
  • [46] NMR Measurements Reveal the Structural Basis of Transthyretin Destabilization by Pathogenic Mutations
    Leach, Benjamin, I
    Zhang, Xin
    Kelly, Jeffery W.
    Dyson, H. Jane
    Wright, Peter E.
    BIOCHEMISTRY, 2018, 57 (30) : 4421 - 4430
  • [47] Erratum: Structural basis for activation of the titin kinase domain during myofibrillogenesis
    Olga Mayans
    Peter F. M. van der Ven
    Matthias Wilm
    Alexander Mues
    Paul Young
    Dieter O. Fürst
    Matthias Wilmanns
    Mathias Gautel
    Nature, 1999, 397 : 719 - 719
  • [48] The assembly and evaluation of antisense oligonucleotides applied in exon skipping for titin-based mutations in dilated cardiomyopathy
    Hahn, Julia Kelley
    Neupane, Balram
    Pradhan, Kabita
    Zhou, Qifeng
    Testa, Lauren
    Pelzl, Lisann
    Maleck, Carole
    Gawaz, Meinrad
    Gramlich, Michael
    JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2019, 131 : 12 - 19
  • [49] The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations
    Marin-Garcia, J
    Goldenthal, MJ
    Ananthakrishnan, R
    Pierpont, ME
    JOURNAL OF CARDIAC FAILURE, 2000, 6 (04) : 321 - 329
  • [50] Discovery of TITIN Gene Truncating Variant Mutations and 5-Year Outcomes in Patients With Nonischemic Dilated Cardiomyopathy
    Anderson, Jeffrey L.
    Christensen, G. Bryce
    Escobar, Helaman
    Horne, Benjamin D.
    Knight, Stacey
    Jacobs, Victoria
    Afshar, Kia
    Hebl, Virginia B.
    Muhlestein, Joseph B.
    Knowlton, Kirk U.
    Carlquist, John F.
    Nadauld, Lincoln D.
    AMERICAN JOURNAL OF CARDIOLOGY, 2020, 137 : 97 - 102