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 …
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 …
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 …
(SMN) protein, which has a well characterized function in spliceosomal small nuclear …
Spinal muscular atrophy: the role of SMN in axonal mRNA regulation
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous
mutations or deletions in the survival of motor neuron (SMN1) gene, encoding the …
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 …
neuron loss in the spinal cord and lower brainstem, muscle weakness, and atrophy. The …
Spinal muscular atrophy: a clinical and research update
Spinal muscular atrophy, a hereditary degenerative disorder of lower motor neurons
associated with progressive muscle weakness and atrophy, is the most common genetic …
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 …
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
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 …
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 …
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 …
spinal muscular atrophy (SMA), the most common genetic cause of infant death. The …