Cargando…

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity. Here, we investigated the role of glial cells in the periph...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hunter, Gillian, Powis, Rachael A., Jones, Ross A., Groen, Ewout J.N., Shorrock, Hannah K., Lane, Fiona M., Zheng, Yinan, Sherman, Diane L., Brophy, Peter J., Gillingwater, Thomas H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2016
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181642/ https://www.ncbi.nlm.nih.gov/pubmed/27170316 http://dx.doi.org/10.1093/hmg/ddw141

Ejemplares similares

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology
por: Bernabò, Paola, et al.
Publicado: (2017)

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy
por: Groen, Ewout J N, et al.
Publicado: (2018)

Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy
por: Shorrock, Hannah K., et al.
Publicado: (2018)

Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy
por: Powis, Rachael A., et al.
Publicado: (2016)

Neurochondrin interacts with the SMN protein suggesting a novel mechanism for spinal muscular atrophy pathology
por: Thompson, Luke W., et al.
Publicado: (2018)

SMN-primed ribosomes modulate the translation of transcripts related to Spinal Muscular Atrophy
por: Lauria, Fabio, et al.
Publicado: (2020)

Therapeutic strategies for spinal muscular atrophy: SMN and beyond
por: Bowerman, Melissa, et al.
Publicado: (2017)

AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn(2B/−) spinal muscular atrophy mice
por: Brown, Sharon J, et al.
Publicado: (2023)

SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis
por: Bos, Jeroen W., et al.
Publicado: (2021)

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy
por: Wadman, Renske I, et al.
Publicado: (2020)

Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
por: Šoltić, Darija, et al.
Publicado: (2020)

Survival Motor Neuron (SMN) protein is required for normal mouse liver development
por: Szunyogova, Eva, et al.
Publicado: (2016)

SMN post-translational modifications in spinal muscular atrophy
por: Riboldi, Giulietta M., et al.
Publicado: (2023)

Corrigendum: Survival Motor Neuron (SMN) protein is required for normal mouse liver development
por: Szunyogova, Eva, et al.
Publicado: (2016)

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

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

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy
por: Boyd, Penelope J., et al.
Publicado: (2017)

Terminal Schwann cells at the human neuromuscular junction
por: Alhindi, Abrar, et al.
Publicado: (2021)

Therapy Development for Spinal Muscular Atrophy in SMN Independent Targets
por: Tsai, Li-Kai
Publicado: (2012)

Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology
por: Bowerman, Melissa, et al.
Publicado: (2014)

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy
por: Shorrock, Hannah K, et al.
Publicado: (2018)

Lysine-Less Variants of Spinal Muscular Atrophy SMN and SMNΔ7 Proteins Are Degraded by the Proteasome Pathway
por: Sánchez-Lanzas, Raúl, et al.
Publicado: (2017)

SMN1 dosage analysis in spinal muscular atrophy from India
por: Kesari, Akanchha, et al.
Publicado: (2005)

Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling
por: Sen, Anindya, et al.
Publicado: (2011)

Deletion of SMN and NAIP genes in Korean patients with spinal muscular atrophy.
por: Shin, S., et al.
Publicado: (2000)

The Spinal Muscular Atrophy Disease Protein SMN Is Linked to the Golgi Network
por: Ting, Chen-Hung, et al.
Publicado: (2012)

25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy
por: Tiziano, Francesco Danilo, et al.
Publicado: (2020)

SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy
por: Valsecchi, Valeria, et al.
Publicado: (2023)

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA
por: Shorrock, Hannah K., et al.
Publicado: (2019)

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
por: Peeters, Kristien, et al.
Publicado: (2014)

Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy
por: Rekik, Imen, et al.
Publicado: (2013)

Targeting SR Proteins Improves SMN Expression in Spinal Muscular Atrophy Cells
por: Wee, Claribel D., et al.
Publicado: (2014)

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy
por: Costa-Roger, Mar, et al.
Publicado: (2021)

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

NSC Physiological Features in Spinal Muscular Atrophy: SMN Deficiency Effects on Neurogenesis
por: Adami, Raffaella, et al.
Publicado: (2022)

UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration
por: Groen, Ewout J.N., et al.
Publicado: (2015)

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls
por: Fang, Ping, et al.
Publicado: (2015)

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development
por: Butchbach, Matthew E. R.
Publicado: (2021)

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy
por: Pagliarini, Vittoria, et al.
Publicado: (2015)

Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes
por: Garcia-Lopez, Amparo, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_o4ro7sdj0m9a8t5idf54okplcs