SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy-Reference-Cited by-同舟云学术

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

Published:2014-08-08 Issue:6197 Volume:345 Page:688-693
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Naryshkin Nikolai A.¹,Weetall Marla¹,Dakka Amal¹,Narasimhan Jana¹,Zhao Xin¹,Feng Zhihua²,Ling Karen K. Y.²,Karp Gary M.¹,Qi Hongyan¹,Woll Matthew G.¹,Chen Guangming¹,Zhang Nanjing¹,Gabbeta Vijayalakshmi¹,Vazirani Priya¹,Bhattacharyya Anuradha¹,Furia Bansri¹,Risher Nicole¹,Sheedy Josephine¹,Kong Ronald¹,Ma Jiyuan¹,Turpoff Anthony¹,Lee Chang-Sun¹,Zhang Xiaoyan¹,Moon Young-Choon¹,Trifillis Panayiota¹,Welch Ellen M.¹,Colacino Joseph M.¹,Babiak John¹,Almstead Neil G.¹,Peltz Stuart W.¹,Eng Loren A.³,Chen Karen S.³,Mull Jesse L.⁴,Lynes Maureen S.⁴,Rubin Lee L.⁴,Fontoura Paulo⁵,Santarelli Luca⁵,Haehnke Daniel⁵,McCarthy Kathleen D.³,Schmucki Roland⁵,Ebeling Martin⁵,Sivaramakrishnan Manaswini⁵,Ko Chien-Ping²,Paushkin Sergey V.³,Ratni Hasane⁵,Gerlach Irene⁵,Ghosh Anirvan⁵,Metzger Friedrich⁵

Affiliation:

1. PTC Therapeutics, 100 Corporate Court, South Plainfield, NJ 07080, USA.

2. Section of Neurobiology, Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA.

3. SMA Foundation, 888 Seventh Avenue, Suite 400, New York, NY 10019, USA.

4. Department of Stem Cell and Regenerative Biology and the Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA.

5. Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche, Grenzacherstrasse 124, 4070 Basel, Switzerland.

Abstract

Drugs that provide the splice of life Motor neurons relay signals from the nervous system to muscle fibers. In patients with spinal muscular atrophy, a protein required for the survival of these neurons is deficient or missing altogether, so the neurons gradually die and the patients' muscles waste away. The disease is currently untreatable. Naryshkin et al. discovered small-molecule drugs that cause cells to produce the missing protein by altering how a specific mRNA is put together, or “spliced” (see the Perspective by Vigevani and Valcárcel). When the researchers used the drugs to treat diseased mice, the mice showed marked improvement in muscle mass, motor function, and survival. Science , this issue p. 688 ; see also p. 624

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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