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MetabolomicsSMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy

Beyond motor neuron degeneration, homozygous mutations in the survival motor neuron 1 (SMN1) gene cause multiorgan and metabolic defects in patients with spinal muscular atrophy (SMA). However, the precise biochemical features of these alterations and the age of onset in the brain and peripheral ...

2023-11-27 | MTBLS8784 | MetaboLights
ProteomicsLiver Steatosis and Mitochondrial Dysfunction in Spinal Muscular Atrophy is Survival Motor Neuron-Dependent and Hepatocyte-Intrinsic
Spinal Muscular Atrophy (SMA) is typically characterized as a motor neuron disease, but extra-neuronal phenotypes are present in almost every organ in severely affected patients and animal models. Extra-neuronal phenotypes were previously underappreciated as patients with severe SMA phenotypes usual...
ORGANISM(S): Homo Sapiens (human) 
2024-05-09 | PXD045401 | JPOST Repository
GenomicsSMN and Symmetric Arginine Dimethylation of RNAP II CTD Control Termination
The C-terminal domain (CTD) of the RNA polymerase II (RNAPII) subunit POLR2A is a platform for modifications specifying the recruitment of factors that regulate transcription, mRNA processing, and chromatin remodeling. Here, we show that a CTD arginine residue (R1810 in human) that is conserved acr...
ORGANISM(S): Homo sapiens 
2015-12-31 | E-GEOD-73379 | biostudies-arrayexpress
TranscriptomicsDevelopmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes
RNA-seq was used to analyze mRNA levels and splicing differences between wild-type (Oregon R) and Smn null mutant larvae. Illumina RNA-seq of Oregon R and Smn mutant age-matched larvae from RNA extracted on day four post egg laying. Conclusions from this study used the publicly available modENCODE ...
ORGANISM(S): Drosophila melanogaster 
2013-08-07 | E-GEOD-49587 | biostudies-arrayexpress
TranscriptomicsTranscriptome profiling of severe spinal muscular atrophy mouse embryonic stem cell-derived motor neurons
Proximal spinal muscular atrophy (SMA) is an early onset, autosomal recessive motor neuron disease caused by loss of or mutation in SMN1 (survival motor neuron 1). Despite understanding the genetic basis underlying this disease, it is still not known why motor neurons (MNs) are selectively affected ...
ORGANISM(S): Mus musculus 
2014-09-08 | E-GEOD-56284 | biostudies-arrayexpress
TranscriptomicsAltered Distributions of SMN-containing GEMs and Mitochondria in Motor Neurons of TDP-43 transgenic Mice
TDP-43, a DNA/RNA binding protein involved in RNA transcription and splicing has been associated with the pathophysiology of neurodegenerative diseases, including ALS. However, the function of TDP-43 in motor neurons remains undefined. Here, we employ both gain- and loss-of-function approaches to de...
ORGANISM(S): Mus musculus 
2010-07-30 | E-GEOD-22351 | biostudies-arrayexpress
TranscriptomicsGenome wide analysis of RNA species present in SMN-containing RNPs
Several studies indicate that SMN-containing mRNP complexes could be involved in the axonal localization of a large number of mRNAs. We have used murine motor neuron-like NSC-34 cells and RNA Immuno-Precipitation experiments coupled to microarray analyses to perform a genome-wide analysis of RNA spe...
ORGANISM(S): Mus musculus 
2013-11-29 | E-GEOD-40197 | biostudies-arrayexpress
TranscriptomicsSMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
Characterization of the selectivity of SMN splicing modifiers in SMA type I fibroblasts by RNASeq In total 12 samples were analyzed, divided into four distinct groups (treated with SMN-C3 @ 500 nM; controls for SMN-C3; treated with SMN-C1 @ 100 nM; controls for SMN-C1) containing 3 replicates each.
ORGANISM(S): Homo sapiens 
2014-10-22 | E-GEOD-62540 | biostudies-arrayexpress
TranscriptomicsTrancriptional regulation by axonal SMN on motor neuron cells
Muscular atrophy (SMA) is an autosomal recessive disease causing selective motor neuron death by the loss of telomeric survival motor neuron gene, SMN1. Axonal SMN, a-SMN, is a truncated form of SMN, derived from an alternatively spliced SMN1 gene. (Setola, et. al. 2007 PNAS 104, 1959-1964). The c...
ORGANISM(S): Mus musculus 
2012-01-07 | E-MEXP-3402 | biostudies-arrayexpress
TranscriptomicsSMN MO, Gemin2 MO knockdown vs Control MO injected
Transcriptiome profiling of SMN MO injected, Gemin2 MO injected zebrafish embryos vs Control MO injected Two condition experiment : MO injected vs control. Biological replicates for SMN MO injected : 6, Biological replicates for Gemin2 MO injected: 7; Control MO injected from 6 independent batches p...
ORGANISM(S): Danio rerio 
2013-12-05 | E-GEOD-47001 | biostudies-arrayexpress
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