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 …
Mouse models of SMA: tools for disease characterization and therapeutic development
TW Bebee, CE Dominguez, DS Chandler - Human genetics, 2012 - Springer
Mouse models of human disease are an important tool for studying disease mechanism and
manifestation in a way that is physiologically relevant. Spinal muscular atrophy (SMA) is a …
manifestation in a way that is physiologically relevant. Spinal muscular atrophy (SMA) is a …
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 critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
M Bowerman, LM Murray, A Beauvais, B Pinheiro… - Neuromuscular …, 2012 - Elsevier
Spinal muscular atrophy (SMA) is caused by mutations/deletions within the SMN1 gene and
characterized by loss of lower motor neurons and skeletal muscle atrophy. SMA is clinically …
characterized by loss of lower motor neurons and skeletal muscle atrophy. SMA is clinically …
[HTML][HTML] Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy
M Bowerman, LM Murray, JG Boyer, CL Anderson… - BMC medicine, 2012 - Springer
Background Spinal muscular atrophy (SMA) is the leading genetic cause of infant death. It is
caused by mutations/deletions of the survival motor neuron 1 (SMN1) gene and is typified by …
caused by mutations/deletions of the survival motor neuron 1 (SMN1) gene and is typified by …
Survival motor neuron affects plastin 3 protein levels leading to motor defects
LT Hao, M Wolman, M Granato… - Journal of …, 2012 - Soc Neuroscience
The actin-binding protein plastin 3 (PLS3) has been identified as a modifier of the human
motoneuron disease spinal muscular atrophy (SMA). SMA is caused by decreased levels of …
motoneuron disease spinal muscular atrophy (SMA). SMA is caused by decreased levels of …
Emerging major synaptic signaling pathways involved in intellectual disability
A Pavlowsky, J Chelly, P Billuart - Molecular psychiatry, 2012 - nature.com
Genetic causes of intellectual disability (ID) include mutations in proteins with various
functions. However, many of these proteins are enriched in synapses and recent …
functions. However, many of these proteins are enriched in synapses and recent …
[HTML][HTML] Analysis of the fibroblast growth factor system reveals alterations in a mouse model of spinal muscular atrophy
N Hensel, A Ratzka, H Brinkmann, L Klimaschewski… - Plos one, 2012 - journals.plos.org
The monogenetic disease Spinal Muscular Atrophy (SMA) is characterized by a progressive
loss of motoneurons leading to muscle weakness and atrophy due to severe reduction of the …
loss of motoneurons leading to muscle weakness and atrophy due to severe reduction of the …
SMN-inducing compounds for the treatment of spinal muscular atrophy
MA Lorson, CL Lorson - Future medicinal chemistry, 2012 - Taylor & Francis
Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality. A
neurodegenerative disease, it is caused by loss of SMN1, although low, but essential, levels …
neurodegenerative disease, it is caused by loss of SMN1, although low, but essential, levels …
Therapeutic strategies for the treatment of spinal muscular atrophy
JJ Cherry, EJ Androphy - Future medicinal chemistry, 2012 - Taylor & Francis
Spinal muscular atrophy (SMA) is an inherited neurodegenerative disease that results in
progressive dysfunction of motor neurons of the anterior horn of the spinal cord. SMA is …
progressive dysfunction of motor neurons of the anterior horn of the spinal cord. SMA is …