Correlation between severity and SMN protein level in spinal muscular atrophy (original) (raw)

Nature Genetics volume 16, pages 265–269 (1997)Cite this article

Abstract

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of motor neurons of the spinal cord. Three different forms of childhood SMA have been recognized on the basts of age at onset and clinical course: Werdnig-Hoffmann disease (type l), the intermediate form (type II) and Kugelberg-Welander disease (type III)1. A gene termed ‘survival of motor neuron’ (SMN) has been recognized as the disease-causing gene in SMA2–6. SMN encodes a protein located within a novel nuclear structure and interacts with RNA-binding proteins7. To elucidate the molecular mechanism underlying the pathogenesis of the disease, we examined the expression of the SMN gene in both controls and SMA patients by western blot and immunohistochemical analyses using antibodies raised against the SMN protein. The present study shows a marked deficiency of the SMN protein in SMA.

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Spinal muscular atrophy

Article 04 August 2022

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Authors and Affiliations

  1. Unité de Recherches sur les Handicaps Génétiques de l'Enfant,INSERM, Unité 6393,IFREM, Institut Necker,Hôpital des Infants Malades, 149 rue de Sévres, 75743, Paris, France
    Suzie Lefebvre, Philippe Burlet, Solange Bertrandy, Olivier Clermont, Arnold Munnich & Judith Melki
  2. Howard Hughes Medical Institute and Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, PA, 19104–6148, USA
    Qing Liu & Gideon Dreyfuss

Authors

  1. Suzie Lefebvre
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  2. Philippe Burlet
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  3. Qing Liu
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  4. Solange Bertrandy
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  5. Olivier Clermont
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  6. Arnold Munnich
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  7. Gideon Dreyfuss
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  8. Judith Melki
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Lefebvre, S., Burlet, P., Liu, Q. et al. Correlation between severity and SMN protein level in spinal muscular atrophy.Nat Genet 16, 265–269 (1997). https://doi.org/10.1038/ng0797-265

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