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Nucleic Acid-Targeted Small Molecules have Therapeutic Potential in the Treatment of Spinal Muscular Atrophy: Small-molecule drugs that can selectively bind RNA and modulate pre-mRNA splicing have potential as a treatment strategy for human disease, including spinal muscular atrophy.

Subjects: Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*drug therapy ; RNA/RNA/RNA/*drug effects ; RNA Splicing/RNA Splicing/RNA Splicing/*drug effects

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Aug; Vol. 176 (8), pp. 1698-1699.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN:

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Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen.

• Authors : Garofalo M; IRCCS Mondino Foundation, Pavia, Italy.; Bonanno S

Subjects: RNA* ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/drug therapy ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics

• Source: Biology direct [Biol Direct] 2023 Sep 13; Vol. 18 (1), pp. 57. Date of Electronic Publication: 2023 Sep 13.Publisher: BioMed Central Country of Publication: England NLM ID: 101258412 Publication Model: Electronic Cited Medium: Internet ISSN: 1745-6150

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Cellular bases of the RNA metabolism dysfunction in motor neurons of a murine model of spinal muscular atrophy: Role of Cajal bodies and the nucleolus.

• Authors : Tapia O; Department of Anatomy and Cell Biology and 'Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED)', University of Cantabria-IDIVAL, Santander, Spain.; Narcís JO

Subjects: Cell Nucleolus/Cell Nucleolus/Cell Nucleolus/*metabolism ; Motor Neurons/Motor Neurons/Motor Neurons/*metabolism ; Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*metabolism

• Source: Neurobiology of disease [Neurobiol Dis] 2017 Dec; Vol. 108, pp. 83-99. Date of Electronic Publication: 2017 Aug 18.Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Linking amyotrophic lateral sclerosis and spinal muscular atrophy through RNA-transcriptome homeostasis: a genomics perspective.

• Authors : Gama-Carvalho M; Universidade de Lisboa, Faculdade de Ciências, BioISI - Biosystems & Integrative Sciences Institute, Campo Grande, 1749-016 Lisboa, Portugal.; L Garcia-Vaquero M

Subjects: Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*genetics ; Genomics/Genomics/Genomics/*methods ; Homeostasis/Homeostasis/Homeostasis/*genetics

• Source: Journal of neurochemistry [J Neurochem] 2017 Apr; Vol. 141 (1), pp. 12-30. Date of Electronic Publication: 2017 Feb 28.Publisher: Wiley on behalf of the International Society for Neurochemistry Country of Publication: England NLM ID: 2985190R Publication Model: Print-Electronic

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Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions.

• Authors : Singh NN; Department of Biomedical Sciences, Iowa State University, Ames, Iowa.; Lee BM

Subjects: RNA Splicing*; Introns/Introns/Introns/*genetics ; Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*genetics

• Source: Annals of the New York Academy of Sciences [Ann N Y Acad Sci] 2015 Apr; Vol. 1341, pp. 176-87. Date of Electronic Publication: 2015 Feb 27.Publisher: New York Academy of Sciences Country of Publication: United States NLM ID: 7506858 Publication Model: Print-Electronic Cited Medium: Internet

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Genome-wide RNA-Seq of Human Motor Neurons Implicates Selective ER Stress Activation in Spinal Muscular Atrophy.

• Authors : Ng SY; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Harvard Stem Cell Institute, Cambridge, MA 02138, USA.

Subjects: Endoplasmic Reticulum Stress* ; Sequence Analysis, RNA*; Motor Neurons/Motor Neurons/Motor Neurons/*metabolism

• Source: Cell stem cell [Cell Stem Cell] 2015 Nov 05; Vol. 17 (5), pp. 569-84. Date of Electronic Publication: 2015 Aug 27.Publisher: Cell Press Country of Publication: United States NLM ID: 101311472 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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[The role of RNA splicing in the pathogenesis of spinal muscular atrophy and development of its therapeutics].

• Authors : Sahashi K; Department of Neurology, Nagoya University Graduate School of Medicine.; Sobue G

Subjects: RNA Splicing*; Motor Neurons/Motor Neurons/Motor Neurons/*pathology ; Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*genetics

• Source: Brain and nerve = Shinkei kenkyu no shinpo [Brain Nerve] 2014 Dec; Vol. 66 (12), pp. 1471-80.Publisher: igaku Shoin Country of Publication: Japan NLM ID: 101299709 Publication Model: Print Cited Medium: Print ISSN: 1881-6096 (Print)

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Is RNA manipulation a viable therapy for spinal muscular atrophy?

• Authors : Horne C; Clinical Neurobiology, Institute of Biomedical and Clinical Science, Peninsula Medical School, St Luke's Campus, Exeter EX1 2LU, United Kingdom.; Young PJ

Subjects: Genetic Therapy/Genetic Therapy/Genetic Therapy/*methods ; Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*genetics ; Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*therapy

• Source: Journal of the neurological sciences [J Neurol Sci] 2009 Dec 15; Vol. 287 (1-2), pp. 27-31. Date of Electronic Publication: 2009 Sep 15.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

• Authors : Rossoll W; Institut für Klinische Neurobiologie, Department of Neurology, University of Würzburg, Josef-Schneider Strasse 11, D-97080 Würzburg, Germany.; Kröning AK

Subjects: Axons/Axons/Axons/*metabolism ; Mice/Mice/Mice/*embryology ; Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*genetics

• Source: Human molecular genetics [Hum Mol Genet] 2002 Jan 01; Vol. 11 (1), pp. 93-105.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN:

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Spinal muscular atrophy: a disease of altered RNA metabolism?

• Authors : Wellington C; Centre of Molecular Medicine and Therapeutics, UBC Vancouver, BC, Canada.

Subjects: Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*genetics ; RNA/RNA/RNA/*metabolism; Autoantigens/Autoantigens/Autoantigens/genetics

• Source: Clinical genetics [Clin Genet] 1998 Jul; Vol. 54 (1), pp. 23-5.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print)

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