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The Biochemistry of Survival Motor Neuron Protein Is Paving the Way to Novel Therapies for Spinal Muscle Atrophy

Published as part of the Biochemistry series “Biochemistry to Bedside”

  • Patrick Lomonte*
    Patrick Lomonte
    Université de Lyon, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U 1217, Institut NeuroMyoGène (INMG), 69008 Lyon, France
    *Email: [email protected]
  • Faouzi Baklouti
    Faouzi Baklouti
    Université de Lyon, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U 1217, Institut NeuroMyoGène (INMG), 69008 Lyon, France
  • , and 
  • Olivier Binda*
    Olivier Binda
    Université de Lyon, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U 1217, Institut NeuroMyoGène (INMG), 69008 Lyon, France
    *Email: [email protected]
Cite this: Biochemistry 2020, 59, 14, 1391–1397
Publication Date (Web):March 30, 2020
https://doi.org/10.1021/acs.biochem.9b01124
Copyright © 2020 American Chemical Society

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    Abstract

    Abstract Image

    Spinal muscle atrophy (SMA) is the leading genetic cause of infant mortality. SMA originates from the loss of functional survival motor neuron (SMN) protein. In most SMA cases, the SMN1 gene is deleted. However, in some cases, SMN is mutated, impairing its biological functions. SMN mutants could provide clues about the biological functions of SMN and the specific impact on SMA, potentially leading to the identification of new pathways and thus providing novel treatment alternatives, and even personalized care. Here, we discuss the biochemistry of SMN and the most recent SMA treatment strategies.

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    Cited By

    This article is cited by 5 publications.

    1. Laurent Servais, John W. Day, Darryl C. De Vivo, Janbernd Kirschner, Eugenio Mercuri, Francesco Muntoni, Crystal M. Proud, Perry B. Shieh, Eduardo F. Tizzano, Susana Quijano-Roy, Isabelle Desguerre, Kayoko Saito, Eric Faulkner, Kamal M. Benguerba, Dheeraj Raju, Nicole LaMarca, Rui Sun, Frederick A. Anderson, Richard S. Finkel. Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry. Journal of Neuromuscular Diseases 2024, 11 (2) , 425-442. https://doi.org/10.3233/JND-230122
    2. Shaqraa Musawi, Lise-Marie Donnio, Zehui Zhao, Charlène Magnani, Phoebe Rassinoux, Olivier Binda, Jianbo Huang, Arnaud Jacquier, Laurent Coudert, Patrick Lomonte, Cécile Martinat, Laurent Schaeffer, Denis Mottet, Jocelyn Côté, Pierre-Olivier Mari, Giuseppina Giglia-Mari. Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments. Nature Communications 2023, 14 (1) https://doi.org/10.1038/s41467-023-42390-4
    3. Olivier Binda, Aimé Boris Kimenyi Ishimwe, Maxime Galloy, Karine Jacquet, Armelle Corpet, Amélie Fradet-Turcotte, Jocelyn Côté, Patrick Lomonte. The TUDOR domain of SMN is an H3K79 me1 histone mark reader. Life Science Alliance 2023, 6 (6) , e202201752. https://doi.org/10.26508/lsa.202201752
    4. Olivier Binda, Franceline Juillard, Julia Novion Ducassou, Constance Kleijwegt, Geneviève Paris, Andréanne Didillon, Faouzi Baklouti, Armelle Corpet, Yohann Couté, Jocelyn Côté, Patrick Lomonte. SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members. Life Science Alliance 2023, 6 (1) , e202201429. https://doi.org/10.26508/lsa.202201429
    5. Aymeric Ravel-Chapuis, Amir Haghandish, Nasibeh Daneshvar, Bernard J Jasmin, Jocelyn Côté. A novel CARM1–HuR axis involved in muscle differentiation and plasticity misregulated in spinal muscular atrophy. Human Molecular Genetics 2022, 31 (9) , 1453-1470. https://doi.org/10.1093/hmg/ddab333

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