Disease Models & Mechanisms, 2020 Spinal muscular atrophy (SMA) is the leading genetic cause of death in young children, arising from homozygous deletion or mutation of the survival motor neuron 1 (SMN1) gene.
Amanda C. Raimer +6 more
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Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]
, 2008 Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
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Different Stability and Proteasome-Mediated Degradation Rate of SMN Protein Isoforms.
PLoS ONE, 2015 The key pathogenic steps leading to spinal muscular atrophy (SMA), a genetic disease characterized by selective motor neuron degeneration, are not fully clarified.
Denise Locatelli +8 more
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Survival Motor Neuron (SMN) Protein Insufficiency Exacerbates Renal Ischemia/Reperfusion Injury
Frontiers in Physiology, 2019 The survival of motor neuron (SMN) protein is ubiquitously involved in spliceosome assembly and ribonucleoprotein biogenesis. SMN protein is expressed in kidney and can affect cell death processes. However, the role of SMN in acute kidney injury (AKI) is
Xiaoqian Qian +7 more
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WRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodies. [PDF]
PLoS Biology, 2010 The WRAP53 gene gives rise to a p53 antisense transcript that regulates p53. This gene also encodes a protein that directs small Cajal body-specific RNAs to Cajal bodies.
Salah Mahmoudi +7 more
doaj +1 more source
Predicting soil water and mineral nitrogen contents with the STICS model for estimating nitrate leaching under agricultural fields [PDF]
, 2012 The performance of the STICS soil-crop model for the dynamic prediction of soil water content (SWC) and soil mineral nitrogen (SMN) in the root zone (120 cm) of seven agricultural fields was evaluated using field measurements in a coarse-grained alluvial
Justes, Eric +2 more
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ISS-N1 makes the first FDA-approved drug for spinal muscular atrophy
Translational Neuroscience, 2017 Spinal muscular atrophy (SMA) is one of the leading genetic diseases of children and infants. SMA is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene.
Ottesen Eric W.
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RMD Open, 2023 Objectives The survival of motor neuron (SMN) complex has an essential role in the assembly of small nuclear ribonucleoproteins (RNP). Recent reports have described autoantibodies (aAbs) to the SMN complex as novel biomarkers in anti-U1RNP+ myositis ...
Minoru Satoh +15 more
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Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy [PDF]
, 2008 The role of heterotopic (migratory) motoneurons (HMN) in the pathogenesis of spinal muscular atrophy (SMA) is still controversial. We examined the occurrence and amount of HMN in spinal cord tissue from eight children with SMA (six with SMA-I and two ...
Barišić, Nina +10 more
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Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons. [PDF]
PLoS ONE, 2014 Spinal muscular atrophy (SMA) is caused by deficiency of the ubiquitously expressed survival motoneuron (SMN) protein. SMN is crucial component of a complex for the assembly of spliceosomal small nuclear ribonucleoprotein (snRNP) particles.
Benjamin Dombert +4 more
doaj +1 more source