Spinal muscular atrophy: diagnosis and management in a new therapeutic era
WD Arnold, D Kassar, JT Kissel - Muscle & nerve, 2015 - Wiley Online Library
Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor
neuron loss. In this review we provide an update regarding the most common form of SMA …
neuron loss. In this review we provide an update regarding the most common form of SMA …
Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions
RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …
regulation of RNA processing and transport. Alterations of these proteins impact multiple …
[HTML][HTML] RNA and disease
TA Cooper, L Wan, G Dreyfuss - Cell, 2009 - cell.com
Cellular functions depend on numerous protein-coding and noncoding RNAs and the RNA-
binding proteins associated with them, which form ribonucleoprotein complexes (RNPs) …
binding proteins associated with them, which form ribonucleoprotein complexes (RNPs) …
U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation
In eukaryotes, U1 small nuclear ribonucleoprotein (snRNP) forms spliceosomes in equal
stoichiometry with U2, U4, U5 and U6 snRNPs; however, its abundance in human far …
stoichiometry with U2, U4, U5 and U6 snRNPs; however, its abundance in human far …
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
AHM Burghes, CE Beattie - Nature Reviews Neuroscience, 2009 - nature.com
Many neurogenetic disorders are caused by the mutation of ubiquitously expressed genes.
One such disorder, spinal muscular atrophy, is caused by loss or mutation of the survival …
One such disorder, spinal muscular atrophy, is caused by loss or mutation of the survival …
The role of survival motor neuron protein (SMN) in protein homeostasis
H Chaytow, YT Huang, TH Gillingwater… - Cellular and Molecular …, 2018 - Springer
Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of
the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant …
the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant …
[HTML][HTML] SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
The survival of motor neurons (SMN) protein is essential for the biogenesis of small nuclear
RNA (snRNA)-ribonucleoproteins (snRNPs), the major components of the pre-mRNA …
RNA (snRNA)-ribonucleoproteins (snRNPs), the major components of the pre-mRNA …
Splicing of a Critical Exon of Human Survival Motor Neuron Is Regulated by a Unique Silencer Element Located in the Last Intron
NK Singh, NN Singh, EJ Androphy… - Molecular and cellular …, 2006 - Taylor & Francis
Humans have two nearly identical copies of the Survival Motor Neuron (SMN) gene, SMN1
and SMN2. In spinal muscular atrophy (SMA), SMN2 is not able to compensate for the loss …
and SMN2. In spinal muscular atrophy (SMA), SMN2 is not able to compensate for the loss …
[HTML][HTML] An SMN-dependent U12 splicing event essential for motor circuit function
Spinal muscular atrophy (SMA) is a motor neuron disease caused by deficiency of the
ubiquitous survival motor neuron (SMN) protein. To define the mechanisms of selective …
ubiquitous survival motor neuron (SMN) protein. To define the mechanisms of selective …
Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases
MER Butchbach - Frontiers in molecular biosciences, 2016 - frontiersin.org
Proximal spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide,
is an early-onset, autosomal recessive neurodegenerative disease characterized by the loss …
is an early-onset, autosomal recessive neurodegenerative disease characterized by the loss …