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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
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
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
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
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
ProteomicsMass spectrometry-based proteomic comparison of BirA-SMN, BirA-SMN-Y109C and BirA proxisomes.
Although recent advances in gene therapy provide hope for spinal muscular atrophy (SMA) patients, the pathology remains the leading genetic cause of infant mortality. SMA is a monogenic pathology that originates from the loss of the SMN1 gene in most cases or mutations in rare cases. Interestingly, ...
ORGANISM(S): Homo sapiens (Human) 
2022-10-19 | PXD030970 | Pride
Survival motor neuron (smn) Spinal muscle atrophy (sma) Bioid Nanolc-ms/ms 
ProteomicsNeurochondrin interacts with the SMN protein suggesting a novel mechanism for Spinal Muscular Atrophy pathology.
Spinal Muscular Atrophy (SMA) is an inherited neurodegenerative condition caused by reduction in functional Survival Motor Neurones Protein (SMN). SMN has been implicated in transport of mRNA in neural cells for local translation. We previously identified microtubule-dependant mobile vesicles rich i...
ORGANISM(S): Homo sapiens (Human) 
2018-03-15 | PXD008710 | Pride
Snrnps Neurochondrin Sm proteins Smn Spinal muscular atrophy 
TranscriptomicsTranscriptome profiling of untreated and doxycycline-treated HeLa/TO-SmN
Purpose is to examine the effect of SmN expression to gene expression in HeLa Compare the differences between the transcriptome of untreated and doxycycline-treated HeLa/TO-SmN in which expression of SmN is under doxycycline control
ORGANISM(S): Homo sapiens 
2015-01-16 | E-GEOD-54136 | biostudies-arrayexpress
GenomicsLacticaseibacillus paracasei strain:SMN-LBK
Lacticaseibacillus paracasei strain:SMN-LBK Genome sequencing
PRJNA861937 | ENA
GenomicsHITS-CLIP of SMN
HITS-CLIP of SMN
PRJNA433653 | ENA
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