|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results identify critical domains within the SMN protein and have an impact on our understanding of the SMN protein with regards to SMA as well as cellular biology.
|
17635841 |
2007 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A deficiency of the SMN protein results in the inherited neurodegenerative condition SMA (spinal muscular atrophy), a leading cause of infant mortality specifically affecting spinal motor neurons.
|
23863147 |
2013 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
We report here the finding of abnormal Golgi apparatus morphology in motor neuron like cells depleted of SMN as well as Golgi apparatus morphology in SMA patient fibroblasts.
|
30408476 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Reduction of the survival of motor neurons (SMN) protein levels causes the motor neuron degenerative disease spinal muscular atrophy, the severity of which correlates with the extent of reduction in SMN.
|
15964810 |
2005 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
We used the SMN∆7 mouse model of SMA to investigate the cellular reorganization of polyadenylated mRNAs associated with the splicing dysfunction in MNs.
|
29941967 |
2018 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Differentiation and quantification of SMN1 and SMN2 are essential for clinical screening of SMA patients and carriers.
|
19373809 |
2009 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Of the 12 neuromuscular studies exclusively on spinal muscular atrophy type 1 (SMA1), six (50%) reported decreased hospitalizations and nine (75%) reported on mortality outcomes.
|
29484287 |
2018 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Antisense therapy targeting SMN2 which leads to SMN protein expression has been at the forefront of research when it comes to developing a feasible therapy for treating SMA.
|
30171558 |
2018 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mouse models of human spinal muscular atrophy disease suggest a potential role of SMN protein in skeletal development.
|
17761651 |
2007 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Linkage studies, as well as the analysis of the SMN gene, recognised that SMA variants (with severe arthogryposis or cerebellar or diaphragmatic involvement) are not linked to chromosome 5q markers.
|
9185186 |
1997 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The SMN genes, SMN1 and SMN2, are highly homologous genes which are related to the development or clinical severity of spinal muscular atrophy.
|
29580671 |
2018 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The survival of motor neuron (SMN) gene is mutated or deleted in most forms of SMA, which results in a critical reduction in SMN protein.
|
23315303 |
2013 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The motor neuron degenerative disease spinal muscular atrophy is caused by reduced expression of the survival motor neuron (SMN) protein.
|
11121410 |
2001 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In contrast to other neurodegenerative disorders, SMA is a genetically homozygous autosomal recessive disease that is caused by deficiency of the survival motor neuron (SMN) protein.
|
20581815 |
2010 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Importantly, an SMA-causing mutation in the Tudor domain of SMN completely abolished translational repression, a strong indication for the functional significance of this novel SMN activity in the pathology.
|
23136128 |
2013 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Among the factors analyzed, two seem to influence the SMA phenotype: the number of SMN2 gene copies and a deletion in the NAIP gene.
|
19287802 |
2009 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
SMA is caused by the lack of survival motor neuron (SMN) protein due to mutations, which are often deletions, in the <i>SMN1</i> gene.
|
29434670 |
2018 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The mice had no marked motor deficits and neuromuscular junction (NMJ) function was near normal thus it appears that induction of SMN in postnatal SMA mice rescues motor function.
|
21672919 |
2011 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
However, by manipulation of pre-mRNA splicing using antisense oligonucleotides, defective transcripts from the DMD gene and from the SMN2 gene in SMA can be modified to once again produce protein and restore function.
|
23631896 |
2013 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
These observations suggest that SMA may in part result from abnormal gene expression and that E2 may influence viral gene expression through SMN interaction.
|
10369867 |
1999 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal Muscular Atrophy (SMA) is a neuromuscular disease caused by mutations in the Survival Motor Neuron 1 gene, resulting in very low levels of functional Survival of Motor Neuron (SMN) protein.
|
27483257 |
2016 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The primary objective of the present study was to evaluate the applicability of the dosage of SMN gene produts in blood, as biomarker for SMA, and the safety of oral salbutamol, a beta2-adrenergic agonist modulating <i>SMN2</i> levels.
|
30593463 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Most notably, the survival motor neuron protein, deficient in the most common form of spinal muscular atrophy, plays a multifunctional role in ribonucleoprotein metabolism and pre-messenger RNA splicing.
|
14501843 |
2003 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The primary cause of most, if not all, forms of childhood-onset spinal muscular atrophy appears to be the homozygous loss of the telomeric copy of the survival motor neuron (SMNT) gene.
|
9225684 |
1997 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity.
|
20194437 |
2010 |