Search Results

Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy.

• Authors : Ottesen EW; Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, USA.; Singh NN

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

• Source: Nucleic acids research [Nucleic Acids Res] 2023 Jul 07; Vol. 51 (12), pp. 5948-5980.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

Record details

Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells.

• Authors : Pagliarini V; Department of Neuroscience, Section of Human Anatomy, Catholic University of the Sacred Heart, Rome, Italy.; IRCCS Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.

Subjects: Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/metabolism; Oligonucleotides/Oligonucleotides/Oligonucleotides/*pharmacology

• Source: Journal of neurochemistry [J Neurochem] 2020 Apr; Vol. 153 (2), pp. 264-275. Date of Electronic Publication: 2020 Jan 08.Publisher: Wiley on behalf of the International Society for Neurochemistry Country of Publication: England NLM ID: 2985190R Publication Model: Print-Electronic

Record details

Short-duration splice promoting compound enables a tunable mouse model of spinal muscular atrophy.

• Authors : Rietz A; Department of Dermatology, Indiana University School of Medicine, Indianapolis, IN, USA.; Hodgetts KJ

Subjects: Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*drug therapy ; Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*genetics ; Piperidines/Piperidines/Piperidines/*administration & dosage

• Source: Life science alliance [Life Sci Alliance] 2020 Nov 24; Vol. 4 (1). Date of Electronic Publication: 2020 Nov 24 (Print Publication: 2021).Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic-Print Cited Medium: Internet

Record details

How RNA structure dictates the usage of a critical exon of spinal muscular atrophy gene.

• Authors : Singh NN; Department of Biomedical Science, Iowa State University, Ames, IA 50011, United States of America.; Singh RN

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

• Source: Biochimica et biophysica acta. Gene regulatory mechanisms [Biochim Biophys Acta Gene Regul Mech] 2019 Nov - Dec; Vol. 1862 (11-12), pp. 194403. Date of Electronic Publication: 2019Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731723 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

[Alternative splicing and the cure of spinal muscular atrophy].

• Authors : Marasco LE; Instituto de Fisiología, Biología Molecular y Neurociencias (IFIBYNE), UBA-CONICET, Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Argentina.; Stigliano J

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

• Source: Medicina [Medicina (B Aires)] 2019; Vol. 79 (Spec 6/1), pp. 582-586.Publisher: Fundación Revista Medicina (Buenos Aires) Country of Publication: Argentina NLM ID: 0204271 Publication Model: Print Cited Medium: Internet

Record details

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:

Record details

Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 ( SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA).

• Authors : Ratni H; F. Hoffmann-La Roche Ltd., pRED, Pharma Research & Early Development , Roche Innovation Center Basel , Grenzacherstrasse 124 , 4070 Basel , Switzerland.; Ebeling M

Subjects: Drug Discovery*; Azo Compounds/Azo Compounds/Azo Compounds/*pharmacology ; Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/Muscular Atrophy, Spinal/*drug therapy

• Source: Journal of medicinal chemistry [J Med Chem] 2018 Aug 09; Vol. 61 (15), pp. 6501-6517. Date of Electronic Publication: 2018 Jul 25.Publisher: American Chemical Society Country of Publication: United States NLM ID: 9716531 Publication Model: Print-Electronic Cited Medium: Internet

Record details

Recent Advances and Clinical Applications of Exon Inclusion for Spinal Muscular Atrophy.

• Authors : Son HW; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.; Yokota T

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

• Source: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2018; Vol. 1828, pp. 57-68.Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029

Record details

In Vitro Evaluation of Antisense-Mediated Exon Inclusion for Spinal Muscular Atrophy.

• Authors : Touznik A; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.; Maruyama R

Subjects: Exons* ; Gene Expression Regulation* ; RNA Splicing*

• Source: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2018; Vol. 1828, pp. 439-454.Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029

Record details

Combination of valproic acid and morpholino splice-switching oligonucleotide produces improved outcomes in spinal muscular atrophy patient-derived fibroblasts.

• Authors : Farrelly-Rosch A; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria 3052, Australia.; Lau CL

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

• Source: Neurochemistry international [Neurochem Int] 2017 Sep; Vol. 108, pp. 213-221. Date of Electronic Publication: 2017 Apr 04.Publisher: Pergamon Press Country of Publication: England NLM ID: 8006959 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details