Therapeutic strategies for spinal muscular atrophy: SMN and beyond

Therapeutic strategies for spinal muscular atrophy: SMN and beyond

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Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is caused by low levels of the survival motor neuron protein (SMN) due to inactivating mutations in the encoding gene SMN1. A second...

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Manylion Llyfryddiaeth
Prif Awduron:	Bowerman, M, Becker, C, Yáñez-Muñoz, R, Ning, K, Wood, M, Gillingwater, T, Talbot, K, UK SMA Research Consortium
Fformat:	Journal article
Cyhoeddwyd:	Company of Biologists 2017

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Therapeutic strategies for spinal muscular atrophy: SMN and beyond
gan: Bowerman, M, et al.
Cyhoeddwyd: (2017)

Therapeutic strategies for spinal muscular atrophy: SMN and beyond
gan: Melissa Bowerman, et al.
Cyhoeddwyd: (2017-08-01)

Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
gan: Winkelsas, AM, et al.
Cyhoeddwyd: (2021)

Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
gan: Audrey M. Winkelsas, et al.
Cyhoeddwyd: (2021-03-01)

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy.
gan: Wishart, T, et al.
Cyhoeddwyd: (2010)

Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape
gan: Wood, M, et al.
Cyhoeddwyd: (2017)

SMN post-translational modifications in spinal muscular atrophy
gan: Giulietta M. Riboldi, et al.
Cyhoeddwyd: (2023-02-01)

Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes
gan: Yuri Yépez, et al.
Cyhoeddwyd: (2020-06-01)

Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
gan: Darija Šoltić, et al.
Cyhoeddwyd: (2020-03-01)

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy.
gan: Sleigh, J, et al.
Cyhoeddwyd: (2011)

Therapy Development for Spinal Muscular Atrophy in SMN Independent Targets
gan: Li-Kai Tsai
Cyhoeddwyd: (2012-01-01)

CORRIGENDUM to Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
Cyhoeddwyd: (2020-04-01)

The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs
gan: Niko Hensel, et al.
Cyhoeddwyd: (2020-02-01)

Restoring SMN Expression: An Overview of the Therapeutic Developments for the Treatment of Spinal Muscular Atrophy
gan: Tejal Aslesh, et al.
Cyhoeddwyd: (2022-01-01)

SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy
gan: Valeria Valsecchi, et al.
Cyhoeddwyd: (2023-11-01)

The spinal muscular atrophy disease protein SMN is linked to the Golgi network.
gan: Chen-Hung Ting, et al.
Cyhoeddwyd: (2012-01-01)

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology
gan: Paola Bernabò, et al.
Cyhoeddwyd: (2017-10-01)

Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts
gan: Ilaria Signoria, et al.
Cyhoeddwyd: (2024-12-01)

Quantitative and structural features of the SMN1 and SMN2 genes in patients with spinal muscular atrophy 5q
gan: A. I. Vlasenko, et al.
Cyhoeddwyd: (2024-12-01)

A single amino acid residue regulates PTEN-binding and stability of the spinal muscular atrophy protein SMN
gan: Rademacher, S, et al.
Cyhoeddwyd: (2020)

Spinal muscular atrophy.
gan: Talbot, K, et al.
Cyhoeddwyd: (2001)

Targeting SR proteins improves SMN expression in spinal muscular atrophy cells.
gan: Claribel D Wee, et al.
Cyhoeddwyd: (2014-01-01)

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy
gan: James N. Sleigh, et al.
Cyhoeddwyd: (2011-07-01)

Molecular and Epidemiological Characterization of SMN Genes in Cuban Patients with Spinal Muscular Atrophy
gan: Fabián Lombillo-Alfonso, et al.
Cyhoeddwyd: (2020-01-01)

Molecular And Epidemiological Characterization Of SMN Genes In Cuban Patients With Spinal Muscular Atrophy
gan: Fabián Lombillo, et al.
Cyhoeddwyd: (2019-05-01)

What could be the function of the spinal muscular atrophy-causing protein SMN in macrophages?
gan: Ines Tapken, et al.
Cyhoeddwyd: (2024-05-01)

Development and Translation of Therapies for Spinal Muscular Atrophy
gan: Hannah K. Shorrock, et al.
Cyhoeddwyd: (2016-07-01)

Review: neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy.
gan: Murray, L, et al.
Cyhoeddwyd: (2010)

Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
gan: Winkelsas, AM
Cyhoeddwyd: (2020)

Abnormal motor phenotype in the SMNΔ7 mouse model of spinal muscular atrophy
gan: Matthew E.R. Butchbach, et al.
Cyhoeddwyd: (2007-08-01)

A Single Amino Acid Residue Regulates PTEN-Binding and Stability of the Spinal Muscular Atrophy Protein SMN
gan: Sebastian Rademacher, et al.
Cyhoeddwyd: (2020-11-01)

The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy
gan: W. Arnold, et al.
Cyhoeddwyd: (2016-03-01)

Gene therapy for spinal muscular atrophy: perspectives on the possibility of optimizing SMN1 delivery to correct all neurological and systemic perturbations
gan: Sharon J. Brown, et al.
Cyhoeddwyd: (2025-07-01)

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
gan: Niba, Emma Tabe Eko, et al.
Cyhoeddwyd: (2022)

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
gan: Niba, Emma Tabe Eko, et al.
Cyhoeddwyd: (2022)

P719: SMN1 deletion and silent carrier screening for spinal muscular atrophy
gan: Poh San Lai, et al.
Cyhoeddwyd: (2024-01-01)

Investigation of a recombinant SMN protein delivery system to treat spinal muscular atrophy
gan: Anderton Ryan, et al.
Cyhoeddwyd: (2014-03-01)

Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes
gan: Amparo Garcia-Lopez, et al.
Cyhoeddwyd: (2018-05-01)

Analysis of the survival of motor neuron (SMN1) gene mutations in Spinal Muscular Atrophy through models
gan: Owen, N, et al.
Cyhoeddwyd: (2002)

Chapter 16 Spinal Muscular Atrophy
gan: Talbot, K, et al.
Cyhoeddwyd: (2003)