Survival motor Neuron protein regulates apoptosis in anin vitro model of Spinal muscular atrophy

2008 ◽  
Vol 13 (1) ◽  
pp. 39-48 ◽  
Author(s):  
Graham C. Parker ◽  
Xingli Li ◽  
Roumen A. Anguelov ◽  
Gabor Toth ◽  
Adam Cristescu ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Survival Motor Neuron Protein ◽  
Motor Neuron Protein ◽  
Vitro Model

scholarly journals Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells

2015 ◽  
Vol 4 ◽  
pp. 351-356 ◽  
Author(s):  
Nur Imma Fatimah Harahap ◽  
Dian Kesumapramudya Nurputra ◽  
Mawaddah Ar Rochmah ◽  
Ai Shima ◽  
Naoya Morisada ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Protein Degradation ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Survival Motor Neuron Protein ◽  
Motor Neuron Protein

scholarly journals Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCFSlmb degron

2018 ◽  
Vol 29 (2) ◽  
pp. 96-110 ◽  
Author(s):  
Kelsey M. Gray ◽  
Kevin A. Kaifer ◽  
David Baillat ◽  
Ying Wen ◽  
Thomas R. Bonacci ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Protein Isoforms ◽  
Survival Motor Neuron Protein ◽  
Protein Levels ◽  
Motor Neuron Protein ◽  
Smn Protein ◽  
Oligomerization Domain

SMN protein levels inversely correlate with the severity of spinal muscular atrophy. The SCFSlmbE3 ligase complex interacts with a degron embedded within the C-terminal self-oligomerization domain of SMN. The findings elucidate a model whereby accessibility of the SMN degron is regulated by self-multimerization.

scholarly journals Whole blood survival motor neuron protein levels correlate with severity of denervation in spinal muscular atrophy

2020 ◽  
Vol 62 (3) ◽  
pp. 351-357 ◽  
Author(s):  
Christiano R. R. Alves ◽  
Ren Zhang ◽  
Alec J. Johnstone ◽  
Reid Garner ◽  
Eric J. Eichelberger ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Whole Blood ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Survival Motor Neuron Protein ◽  
Protein Levels ◽  
Motor Neuron Protein

A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy

2015 ◽  
Vol 25 ◽  
pp. S193-S194
Author(s):  
M. Arakawa ◽  
R. Arakawa ◽  
R. Aoki ◽  
A. Nomoto ◽  
K. Saito ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Evaluation Method ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Survival Motor Neuron Protein ◽  
Motor Neuron Protein

scholarly journals HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects

2010 ◽  
Vol 20 (3) ◽  
pp. 553-579 ◽  
Author(s):  
Lisa Hubers ◽  
Hector Valderrama-Carvajal ◽  
Janik Laframboise ◽  
Janie Timbers ◽  
Gabriel Sanchez ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Survival Motor Neuron Protein ◽  
Motor Neuron Protein

scholarly journals Short duration splice promoting compound enables a tunable mouse model of spinal muscular atrophy

2020 ◽  
Author(s):  
A Rietz ◽  
KJ Hodgetts ◽  
H Lusic ◽  
KM Quist ◽  
EY Osman ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Continuous Treatment ◽  
Transgenic Mouse Models ◽  
Survival Motor Neuron Protein ◽  
Optimal Outcomes ◽  
Fda Approval ◽  
Motor Neuron Protein

AbstractSpinal muscular atrophy (SMA) is a motor neuron disease and the leading cause of infant mortality. SMA results from insufficient survival motor neuron protein (SMN) levels due to alternative splicing. Antisense oligonucleotides, gene therapy and splicing modifiers recently received FDA approval. However, early intervention is required for optimal outcomes, and even continuous treatment maybe insufficient to restore full motor function. Although severe SMA transgenic mouse models have been beneficial for testing therapeutic efficacy, models mimicking milder cases that manifest post-infancy have proven challenging to develop. We have established a titratable model of mild and moderate SMA using the splicing compound NVS-SM2. Administration for 30 days prevented development of the SMA phenotype in severe SMA mice, which typically show rapid weakness and succumb by postnatal day 11. Furthermore, administration at day eight resulted in phenotypic recovery. Remarkably, acute dosing limited to the first three days of life significantly enhanced survival in two severe SMA mice models, easing the burden on neonates and demonstrating the compound as suitable for evaluation of follow-on therapies without potential drug-drug interactions.

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