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Volumn 388, Issue 10063, 2016, Pages 2964-2965

Dawn of a new therapeutic era for spinal muscular atrophy

Author keywords

[No Author keywords available]

Indexed keywords

NUSINERSEN; SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

EID: 85006276883     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(16)32390-X     Document Type: Note
Times cited : (7)

References (12)
  • 1
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • 1 Lefebvre, S, Bürglen, L, Reboullet, S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80 (1995), 155–165.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Bürglen, L.2    Reboullet, S.3
  • 2
    • 85006321439 scopus 로고    scopus 로고
    • Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label study
    • published online Dec 6.
    • 2 Finkel, RS, Chiriboga, CA, Vajsar, J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label study. Lancet, 2016 published online Dec 6. http://dx.doi.org/10.1016/S0140-6736(16)31408-8.
    • (2016) Lancet
    • Finkel, R.S.1    Chiriboga, C.A.2    Vajsar, J.3
  • 3
    • 84859816485 scopus 로고    scopus 로고
    • Childhood spinal muscular atrophy: controversies and challenges
    • 3 Mercuri, E, Bertini, E, Iannaccone, ST, Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol 11 (2012), 443–452.
    • (2012) Lancet Neurol , vol.11 , pp. 443-452
    • Mercuri, E.1    Bertini, E.2    Iannaccone, S.T.3
  • 4
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • 4 Lorson, CL, Hahnen, E, Androphy, EJ, Wirth, B, A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 96 (1999), 6307–6311.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 5
    • 41549168514 scopus 로고    scopus 로고
    • Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice
    • 5 Hua, Y, Vickers, TA, Okunola, HL, Bennett, CF, Krainer, AR, Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet 82 (2008), 834–848.
    • (2008) Am J Hum Genet , vol.82 , pp. 834-848
    • Hua, Y.1    Vickers, T.A.2    Okunola, H.L.3    Bennett, C.F.4    Krainer, A.R.5
  • 6
    • 79952348568 scopus 로고    scopus 로고
    • Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy
    • 6 Passini, MA, Bu, J, Richards, AM, et al. Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci Transl Med, 3, 2011, 72ra18.
    • (2011) Sci Transl Med , vol.3 , pp. 72ra18
    • Passini, M.A.1    Bu, J.2    Richards, A.M.3
  • 7
    • 84960517144 scopus 로고    scopus 로고
    • Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy
    • 7 Chiriboga, CA, Swoboda, KJ, Darras, BT, et al. Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy. Neurology 86 (2016), 890–897.
    • (2016) Neurology , vol.86 , pp. 890-897
    • Chiriboga, C.A.1    Swoboda, K.J.2    Darras, B.T.3
  • 8
    • 84893819754 scopus 로고    scopus 로고
    • Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation
    • 8 Kariya, S, Obis, T, Garone, C, et al. Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation. J Clin Invest 124 (2014), 785–800.
    • (2014) J Clin Invest , vol.124 , pp. 785-800
    • Kariya, S.1    Obis, T.2    Garone, C.3
  • 9
    • 84871718500 scopus 로고    scopus 로고
    • Spinal muscular atrophy: going beyond the motor neuron
    • 9 Hamilton, G, Gillingwater, TH, Spinal muscular atrophy: going beyond the motor neuron. Trends Mol Med 19 (2013), 40–50.
    • (2013) Trends Mol Med , vol.19 , pp. 40-50
    • Hamilton, G.1    Gillingwater, T.H.2
  • 10
    • 80053902729 scopus 로고    scopus 로고
    • Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
    • 10 Hua, Y, Sahashi, K, Rigo, F, et al. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature 478 (2011), 123–126.
    • (2011) Nature , vol.478 , pp. 123-126
    • Hua, Y.1    Sahashi, K.2    Rigo, F.3
  • 11
    • 84999711589 scopus 로고    scopus 로고
    • The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype
    • 11 Hosseinibarkooie, S, Peters, M, Torres-Benito, L, et al. The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype. Am J Hum Genet 99 (2016), 647–665.
    • (2016) Am J Hum Genet , vol.99 , pp. 647-665
    • Hosseinibarkooie, S.1    Peters, M.2    Torres-Benito, L.3
  • 12
    • 84897548490 scopus 로고    scopus 로고
    • Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy
    • 12 Wishart, TM, Mutsaers, CA, Riessland, M, et al. Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy. J Clin Invest 124 (2014), 1821–1834.
    • (2014) J Clin Invest , vol.124 , pp. 1821-1834
    • Wishart, T.M.1    Mutsaers, C.A.2    Riessland, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.