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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
TranscriptomicsGenome-wide analysis of snRNAs bound to Gemin5 upon protein synthesis inhibition
Here, we report the genome-wide analysis of snRNAs that are bound to Gemin5 upon protein synthesis inhibition. Upon protein synthesis inhibition, the SMN complex that has a crucial role in the biogenesis of snRNPs dissociates into its subunits, leaving Gemin5 alone. The existence of these subunits w...
ORGANISM(S): Homo sapiens 
2010-06-24 | E-GEOD-20751 | 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
ProteomicsInteraction of 7SK with the Smn complex modulates snRNP production
Gene expression requires tight coordination of the molecular machineries that mediate transcription and splicing. While the interplay between transcription kinetics and spliceosome fidelity has been investigated before, less is known about mechanisms regulating the assembly of the spliceosomal machi...
ORGANISM(S): Mus musculus (Mouse) 
2021-01-26 | PXD021360 | Pride
Smn complex Transcription Interaction 7sk 
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 
Genomicsthe role of SMN complex in tissue regeneration
the role of SMN complex in tissue regeneration
PRJNA554249 | ENA
ProteomicsIdentification of Survival Motor Neuron (SMN) complexes in Drosophila using affinity purification-mass spectrometry analysis
Molecular chaperones and co-chaperones are highly conserved cellular components that perform variety of duties related to the proper three-dimensional folding of the proteome. The Survival Motor Neuron (SMN) complex is an RNP assembly chaperone and serves as a paradigm for studying how specific smal...
ORGANISM(S): Drosophila melanogaster (Fruit fly) 
2024-09-11 | PXD053506 | Pride
Innate immunity Spinal muscular atrophy (sma) Apms Drosophila 
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