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Journal Abstract Search

209 related items for PubMed ID: 33084884

  • 1. Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.
    McGovern VL, Kray KM, Arnold WD, Duque SI, Iyer CC, Massoni-Laporte A, Workman E, Patel A, Battle DJ, Burghes AHM.
    Hum Mol Genet; 2020 Nov 01; 29(21):3493-3503. PubMed ID: 33084884
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  • 6. A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
    Monani UR, Pastore MT, Gavrilina TO, Jablonka S, Le TT, Andreassi C, DiCocco JM, Lorson C, Androphy EJ, Sendtner M, Podell M, Burghes AH.
    J Cell Biol; 2003 Jan 06; 160(1):41-52. PubMed ID: 12515823
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  • 8. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model.
    Hua Y, Sahashi K, Rigo F, Hung G, Horev G, Bennett CF, Krainer AR.
    Nature; 2011 Oct 05; 478(7367):123-6. PubMed ID: 21979052
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  • 11. A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy.
    Ruggiu M, McGovern VL, Lotti F, Saieva L, Li DK, Kariya S, Monani UR, Burghes AH, Pellizzoni L.
    Mol Cell Biol; 2012 Jan 05; 32(1):126-38. PubMed ID: 22037760
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  • 14. Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy.
    Groen EJN, Perenthaler E, Courtney NL, Jordan CY, Shorrock HK, van der Hoorn D, Huang YT, Murray LM, Viero G, Gillingwater TH.
    Hum Mol Genet; 2018 Aug 15; 27(16):2851-2862. PubMed ID: 29790918
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  • 15. Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy.
    Wang ZB, Zhang X, Li XJ.
    Cell Res; 2013 Mar 15; 23(3):378-93. PubMed ID: 23208423
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  • 17. Spinal muscular atrophy and the antiapoptotic role of survival of motor neuron (SMN) protein.
    Anderton RS, Meloni BP, Mastaglia FL, Boulos S.
    Mol Neurobiol; 2013 Apr 15; 47(2):821-32. PubMed ID: 23315303
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  • 19. ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy.
    Kannan A, Jiang X, He L, Ahmad S, Gangwani L.
    Brain; 2020 Jan 01; 143(1):69-93. PubMed ID: 31828288
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  • 20. Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy.
    Cobb MS, Rose FF, Rindt H, Glascock JJ, Shababi M, Miller MR, Osman EY, Yen PF, Garcia ML, Martin BR, Wetz MJ, Mazzasette C, Feng Z, Ko CP, Lorson CL.
    Hum Mol Genet; 2013 May 01; 22(9):1843-55. PubMed ID: 23390132
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