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Journal Abstract Search

126 related items for PubMed ID: 38159459

  • 1. Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis.
    Zemorshidi F, Töpf A, Claeys KG, McFarlane A, Patton A, Nafissi S, Straub V.
    Neuromuscul Disord; 2024 Jan; 34():83-88. PubMed ID: 38159459
    [Abstract] [Full Text] [Related]

  • 2. Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
    Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G.
    Brain; 2022 Nov 21; 145(11):3985-3998. PubMed ID: 34957489
    [Abstract] [Full Text] [Related]

  • 3. Impaired Intracellular Ca2+ Dynamics, M-Band and Sarcomere Fragility in Skeletal Muscles of Obscurin KO Mice.
    Pierantozzi E, Szentesi P, Paolini C, Dienes B, Fodor J, Oláh T, Colombini B, Rassier DE, Rubino EM, Lange S, Rossi D, Csernoch L, Bagni MA, Reggiani C, Sorrentino V.
    Int J Mol Sci; 2022 Jan 24; 23(3):. PubMed ID: 35163243
    [Abstract] [Full Text] [Related]

  • 4. Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles.
    Bagnato P, Barone V, Giacomello E, Rossi D, Sorrentino V.
    J Cell Biol; 2003 Jan 20; 160(2):245-53. PubMed ID: 12527750
    [Abstract] [Full Text] [Related]

  • 5. Localization of ank1.5 in the sarcoplasmic reticulum precedes that of SERCA and RyR: relationship with the organization of obscurin in developing sarcomeres.
    Giacomello E, Sorrentino V.
    Histochem Cell Biol; 2009 Mar 20; 131(3):371-82. PubMed ID: 19002483
    [Abstract] [Full Text] [Related]

  • 6. Obscurin modulates the assembly and organization of sarcomeres and the sarcoplasmic reticulum.
    Kontrogianni-Konstantopoulos A, Catino DH, Strong JC, Sutter S, Borisov AB, Pumplin DW, Russell MW, Bloch RJ.
    FASEB J; 2006 Oct 20; 20(12):2102-11. PubMed ID: 17012262
    [Abstract] [Full Text] [Related]

  • 7. When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability.
    Fukuzawa A, Koch D, Grover S, Rees M, Gautel M.
    Hum Mol Genet; 2021 Jun 09; 30(12):1131-1141. PubMed ID: 33438037
    [Abstract] [Full Text] [Related]

  • 8. The rho-guanine nucleotide exchange factor domain of obscurin activates rhoA signaling in skeletal muscle.
    Ford-Speelman DL, Roche JA, Bowman AL, Bloch RJ.
    Mol Biol Cell; 2009 Sep 09; 20(17):3905-17. PubMed ID: 19605563
    [Abstract] [Full Text] [Related]

  • 9. Intracellular calcium current disorder and disease phenotype in OBSCN mutant iPSC-based cardiomyocytes in arrhythmogenic right ventricular cardiomyopathy.
    Chen P, Xiao Y, Wang Y, Zheng Z, Chen L, Yang X, Li J, Wu W, Zhang S.
    Theranostics; 2020 Sep 09; 10(24):11215-11229. PubMed ID: 33042279
    [Abstract] [Full Text] [Related]

  • 10. Obscurin variants and inherited cardiomyopathies.
    Marston S.
    Biophys Rev; 2017 Jun 09; 9(3):239-243. PubMed ID: 28510120
    [Abstract] [Full Text] [Related]

  • 11. Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.
    Fukuzawa A, Lange S, Holt M, Vihola A, Carmignac V, Ferreiro A, Udd B, Gautel M.
    J Cell Sci; 2008 Jun 01; 121(11):1841-51. PubMed ID: 18477606
    [Abstract] [Full Text] [Related]

  • 12. OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
    Marston S, Montgiraud C, Munster AB, Copeland O, Choi O, Dos Remedios C, Messer AE, Ehler E, Knöll R.
    PLoS One; 2015 Jun 01; 10(9):e0138568. PubMed ID: 26406308
    [Abstract] [Full Text] [Related]

  • 13. Obscurin: a multitasking muscle giant.
    Kontrogianni-Konstantopoulos A, Bloch RJ.
    J Muscle Res Cell Motil; 2005 Jun 01; 26(6-8):419-26. PubMed ID: 16625317
    [Abstract] [Full Text] [Related]

  • 14. Molecular interactions with obscurin are involved in the localization of muscle-specific small ankyrin1 isoforms to subcompartments of the sarcoplasmic reticulum.
    Armani A, Galli S, Giacomello E, Bagnato P, Barone V, Rossi D, Sorrentino V.
    Exp Cell Res; 2006 Nov 01; 312(18):3546-58. PubMed ID: 16962094
    [Abstract] [Full Text] [Related]

  • 15. Deletion of obscurin immunoglobulin domains Ig58/59 leads to age-dependent cardiac remodeling and arrhythmia.
    Grogan A, Coleman A, Joca H, Granzier H, Russel MW, Ward CW, Kontrogianni-Konstantopoulos A.
    Basic Res Cardiol; 2020 Sep 10; 115(6):60. PubMed ID: 32910221
    [Abstract] [Full Text] [Related]

  • 16. Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.
    Pernigo S, Fukuzawa A, Beedle AEM, Holt M, Round A, Pandini A, Garcia-Manyes S, Gautel M, Steiner RA.
    Structure; 2017 Jan 03; 25(1):107-120. PubMed ID: 27989621
    [Abstract] [Full Text] [Related]

  • 17. Structural analysis of obscurin gene in hypertrophic cardiomyopathy.
    Arimura T, Matsumoto Y, Okazaki O, Hayashi T, Takahashi M, Inagaki N, Hinohara K, Ashizawa N, Yano K, Kimura A.
    Biochem Biophys Res Commun; 2007 Oct 19; 362(2):281-7. PubMed ID: 17716621
    [Abstract] [Full Text] [Related]

  • 18. Obscurin determines the architecture of the longitudinal sarcoplasmic reticulum.
    Lange S, Ouyang K, Meyer G, Cui L, Cheng H, Lieber RL, Chen J.
    J Cell Sci; 2009 Aug 01; 122(Pt 15):2640-50. PubMed ID: 19584095
    [Abstract] [Full Text] [Related]

  • 19. Obscurin interacts with a novel isoform of MyBP-C slow at the periphery of the sarcomeric M-band and regulates thick filament assembly.
    Ackermann MA, Hu LY, Bowman AL, Bloch RJ, Kontrogianni-Konstantopoulos A.
    Mol Biol Cell; 2009 Jun 01; 20(12):2963-78. PubMed ID: 19403693
    [Abstract] [Full Text] [Related]

  • 20. The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system.
    Bang ML, Centner T, Fornoff F, Geach AJ, Gotthardt M, McNabb M, Witt CC, Labeit D, Gregorio CC, Granzier H, Labeit S.
    Circ Res; 2001 Nov 23; 89(11):1065-72. PubMed ID: 11717165
    [Abstract] [Full Text] [Related]

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