Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA-Reference-Cited by-同舟云学术

Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA

Published:2021-01-27 Issue:578 Volume:13 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Kong Lingling¹^ORCID,Valdivia David O.¹^ORCID,Simon Christian M.²,Hassinan Cera W.¹^ORCID,Delestrée Nicolas²^ORCID,Ramos Daniel M.¹^ORCID,Park Jae Hong¹^ORCID,Pilato Celeste M.¹^ORCID,Xu Xixi¹,Crowder Melissa¹,Grzyb Chloe C.¹^ORCID,King Zachary A.¹,Petrillo Marco³^ORCID,Swoboda Kathryn J.⁴^ORCID,Davis Crystal⁵,Lutz Cathleen M.⁵,Stephan Alexander H.⁶^ORCID,Zhao Xin⁷,Weetall Marla⁷,Naryshkin Nikolai A.⁷,Crawford Thomas O.¹⁸^ORCID,Mentis George Z.²⁹^ORCID,Sumner Charlotte J.¹¹⁰^ORCID

Affiliation:

1. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

2. Center for Motor Neuron Biology and Disease, Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.

3. Biogen, Cambridge, MA 02142, USA.

4. Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

5. Genetic Resource Science, The Jackson Laboratory, Bar Harbor, ME 04609, USA.

6. F. Hoffmann–La Roche Ltd., pRED, Pharma & Early Development, Roche Innovation Center Basel, Basel CH-4070, Switzerland.

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

8. Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

9. Department of Neurology, Columbia University, New York, NY 10032, USA.

10. Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

Abstract

Fetal delays of SMA motor axon radial growth coupled with rapid postnatal degeneration require very early delivery of SMN induction treatments.

Funder

NIH Office of the Director

Cure SMA

SMA foundation

SMA research team

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference63 articles.

1. Identification and characterization of a spinal muscular atrophy-determining gene

2. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

3. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

4. Observational study of spinal muscular atrophy type I and implications for clinical trials

5. Natural history of infantile‐onset spinal muscular atrophy

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