Diverse role of survival motor neuron protein

RN Singh, MD Howell, EW Ottesen… - Biochimica et Biophysica …, 2017 - Elsevier
Abstract The multifunctional Survival Motor Neuron (SMN) protein is required for the survival
of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism …

Spinal muscular atrophy: going beyond the motor neuron

G Hamilton, TH Gillingwater - Trends in molecular medicine, 2013 - cell.com
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by abnormally low
cellular levels of the ubiquitous protein SMN. Traditionally, reduced levels of SMN were …

The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly (A) mRNA in primary motor neuron axons

C Fallini, H Zhang, Y Su, V Silani… - Journal of …, 2011 - Soc Neuroscience
Spinal muscular atrophy (SMA) results from reduced levels of the survival of motor neuron
(SMN) protein, which has a well characterized function in spliceosomal small nuclear …

Spinal muscular atrophy: the role of SMN in axonal mRNA regulation

C Fallini, GJ Bassell, W Rossoll - Brain research, 2012 - Elsevier
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous
mutations or deletions in the survival of motor neuron (SMN1) gene, encoding the …

[HTML][HTML] The genetics of spinal muscular atrophy: progress and challenges

MA Farrar, MC Kiernan - Neurotherapeutics, 2015 - Elsevier
Spinal muscular atrophies (SMAs) are a group of inherited disorders characterized by motor
neuron loss in the spinal cord and lower brainstem, muscle weakness, and atrophy. The …

Spinal muscular atrophy: a clinical and research update

JA Markowitz, P Singh, BT Darras - Pediatric neurology, 2012 - Elsevier
Spinal muscular atrophy, a hereditary degenerative disorder of lower motor neurons
associated with progressive muscle weakness and atrophy, is the most common genetic …

Glucose metabolism and pancreatic defects in spinal muscular atrophy

M Bowerman, KJ Swoboda, JP Michalski… - Annals of …, 2012 - Wiley Online Library
Objective: Spinal muscular atrophy (SMA) is the number 1 genetic killer of young children. It
is caused by mutation or deletion of the survival motor neuron 1 (SMN1) gene. Although …

A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses

JK Kim, NN Jha, T Awano, C Caine, K Gollapalli… - Neuron, 2023 - cell.com
Reduced survival motor neuron (SMN) protein triggers the motor neuron disease, spinal
muscular atrophy (SMA). Restoring SMN prevents disease, but it is not known how …

Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice …

GH Park, Y Maeno-Hikichi, T Awano… - Journal of …, 2010 - Soc Neuroscience
Spinal muscular atrophy (SMA) is a common (∼ 1: 6400) autosomal recessive
neuromuscular disorder caused by a paucity of the survival of motor neuron (SMN) protein …

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

B Ackermann, S Kröber, L Torres-Benito… - Human molecular …, 2013 - academic.oup.com
F-actin bundling plastin 3 (PLS3) is a fully protective modifier of the neuromuscular disease
spinal muscular atrophy (SMA), the most common genetic cause of infant death. The …