Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

MiR34 Contributes to Spinal Muscular Atrophy and AAV9-mediated Delivery of MiR34a Ameliorates the Motor Deficits in SMA Mice

ABSTRACT: MiR34 exhibits consistent downregulation during SMA progression in both human and rodent contexts. Mir34 family-knockout mice display axon swelling and reduced neuromuscular junction (NMJ) end-plates, recapitulating SMA pathology. MiR34 family may target synapse formation and several core pathways that are disrupted in SMA at early postnatal stages. We performed RNA seq on thoracic and lumbar spinal cord and compare gene expression profiles between P14 wild type (WT) and Mir34/449 triple knockout (TKO) mice.

ORGANISM(S): Mus musculus

PROVIDER: GSE228244 | GEO | 2023/09/21

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Similar Datasets

RNA-seq transcriptome profiling of motor neurons (MNs) and surrounding white matter glia (WM) microdissected from pre-symptomatic mouse model of spinal muscular atrophy (SMA)

Project description:We report tramscriptome perturbations in MNs and WM of SMA mouse, prior to first morphological and biochemical synaptic defects Examination of ventral horn MNs and WM isolated from lumbar segment spinal cords from wild type (WT) and SMA mice

2013-11-05 | E-GEOD-51735 | biostudies-arrayexpress

Preliminary insights into RNA in CSF of SMA patients after Nusinersen “loading dose”

Project description:Antisense oligonucleotide (ASO) nusinersen (Spinraza®) modulates the pre–mRNA splicing of the SMN2 gene, allowing rebalance of biologically active SMN. It is administered intrathecally via lumbar puncture after removing an equal amount of cerebrospinal fluid (CSF). Its effect was proven beneficial and approved since 2017 for SMA treatment. Since the direct effect of nusinersen on RNA metabolism, the aim of this project was to evaluate cell-free RNA (cfRNA) in CSF of SMA patients under ASOs treatment for biomarker discovery.

2023-07-03 | GSE221900 | GEO

Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs

Project description:Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations of the survival of motor neuron 1 (SMN1) gene. In the pathogenesis of SMA, pathological changes of the neuromuscular junction (NMJ) precede the motor neuronal loss. Therefore, it is critical to evaluate the NMJ formed by SMA patientsM-bM-^@M-^Y motor neurons (MNs), and to identify drugs that can restore the normal condition. We generated NMJ-like structures using motor neurons (MNs) derived from SMA patient-specific induced pluripotent stem cells (iPSCs), and found that the clustering of the acetylcholine receptor (AChR) is significantly impaired. Valproic acid and antisense oligonucleotide treatment ameliorated the AChR clustering defects, leading to an increase in the level of full-length SMN transcripts. Thus, the current in vitro model of AChR clustering using SMA patient-derived iPSCs is useful to dissect the pathophysiological mechanisms underlying the development of SMA, and to evaluate the efficacy of new therapeutic approaches.M-bM-^@M-^C To compare the gene expression pattern between control and patient derived iPSCs

2015-01-31 | E-GEOD-65470 | biostudies-arrayexpress

Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs (RNA-Seq)

Project description:Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations of the survival of motor neuron 1 (SMN1) gene. In the pathogenesis of SMA, pathological changes of the neuromuscular junction (NMJ) precede the motor neuronal loss. Therefore, it is critical to evaluate the NMJ formed by SMA patientsM-bM-^@M-^Y motor neurons (MNs), and to identify drugs that can restore the normal condition. We generated NMJ-like structures using motor neurons (MNs) derived from SMA patient-specific induced pluripotent stem cells (iPSCs), and found that the clustering of the acetylcholine receptor (AChR) is significantly impaired. Valproic acid and antisense oligonucleotide treatment ameliorated the AChR clustering defects, leading to an increase in the level of full-length SMN transcripts. Thus, the current in vitro model of AChR clustering using SMA patient-derived iPSCs is useful to dissect the pathophysiological mechanisms underlying the development of SMA, and to evaluate the efficacy of new therapeutic approaches.M-bM-^@M-^C to evaluate the effects of VPA on the expression profiles of the MNs

2015-02-03 | E-GEOD-65508 | biostudies-arrayexpress

Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs (RNA-Seq)

Project description:Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations of the survival of motor neuron 1 (SMN1) gene. In the pathogenesis of SMA, pathological changes of the neuromuscular junction (NMJ) precede the motor neuronal loss. Therefore, it is critical to evaluate the NMJ formed by SMA patients’ motor neurons (MNs), and to identify drugs that can restore the normal condition. We generated NMJ-like structures using motor neurons (MNs) derived from SMA patient-specific induced pluripotent stem cells (iPSCs), and found that the clustering of the acetylcholine receptor (AChR) is significantly impaired. Valproic acid and antisense oligonucleotide treatment ameliorated the AChR clustering defects, leading to an increase in the level of full-length SMN transcripts. Thus, the current in vitro model of AChR clustering using SMA patient-derived iPSCs is useful to dissect the pathophysiological mechanisms underlying the development of SMA, and to evaluate the efficacy of new therapeutic approaches.

2015-02-03 | GSE65508 | GEO

Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs

Project description:Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations of the survival of motor neuron 1 (SMN1) gene. In the pathogenesis of SMA, pathological changes of the neuromuscular junction (NMJ) precede the motor neuronal loss. Therefore, it is critical to evaluate the NMJ formed by SMA patients’ motor neurons (MNs), and to identify drugs that can restore the normal condition. We generated NMJ-like structures using motor neurons (MNs) derived from SMA patient-specific induced pluripotent stem cells (iPSCs), and found that the clustering of the acetylcholine receptor (AChR) is significantly impaired. Valproic acid and antisense oligonucleotide treatment ameliorated the AChR clustering defects, leading to an increase in the level of full-length SMN transcripts. Thus, the current in vitro model of AChR clustering using SMA patient-derived iPSCs is useful to dissect the pathophysiological mechanisms underlying the development of SMA, and to evaluate the efficacy of new therapeutic approaches.

2015-01-31 | GSE65470 | GEO

Body size regulation and TGF-beta Sma/Mab pathway: sma L4 vs N2 L4

Project description:To find genes downstream of the TGF-beta Sma/Mab pathway associated with body size regulation in C. elegans. Three replicates comparing RNA from sma-2(e502) L4 whole animal with RNA from wild-type L4 whole animal, in which one is dye flipped. Plus one array comparing RNA from sma-4(e729) L4 whole animal with RNA from wild-type L4 whole animal.

2010-09-01 | E-GEOD-23448 | biostudies-arrayexpress

Gene expression profile of sma-3 mutant Caenorhabditis elegans

Project description:N2 (wildtype) control animals vs. sma-3 mutants vs. sma-6 mutants; 5 replicates each.

2022-02-18 | GSE151035 | GEO

Gene expression profiling in SMA I and III patients

Project description:Proximal spinal muscular atrophy (SMA) is a neurodegenerative disorder associated with mutations of the survival motor neuron gene SMN and characterized by progressive paralysis caused by degeneration of α–motor neurons of the spinal cord. To better understand the effects of SMN gene defect in SMA skeletal muscle tissues we performed a transcriptional analysis of muscle specimens of patient affected by the two extreme forms of SMA: the most severe type I and the mild type III. Patients of both groups had a variable SMN2 copy number that did not correlate with phenotype severity. The two forms of SMA resulted with a distinct expression profile: in SMA III patients the reduced number of modified genes suggests a proximity to normal condition, whereas in SMA I patients there is highly deregulated picture of gene expression. Genes implicated in signal transduction were up regulated in SMA III condition whereas those typical of energy metabolism and muscle contraction were consistently down regulated in severe disease type. Microarray results were validated, and the expression pattern of gene networks involved in atrophy signaling were completed by RQ-PCR. The analysis shows that specific atrophy pathways are involved: IGF/PI3K/Akt and those regulating MNK1-2 (more precisely TNF-α/p38 MAPK and Ras/ERK pathways). The results suggest also a different picture of atrophy pathways in the two forms of SMA. In particular in SMA I muscles, p38 may be the protein synthesis regulator. Moreover SMA III profile appear to be the result of a more complex transcriptome given by the concurrent presence of atrophic and hyperthrophic fibers. This more favorable condition might be due to action of MTOR whose over expression in SMA III could lead to a compensative hypertrophy. Keywords: disease state analysis

2009-06-08 | GSE8359 | GEO

Composition of raft-like cell membrane microdomains resistant to styrene-maleic acid copolymer (SMA) solubilization

Project description:An advantageous alternative to the use of detergents in biochemical studies on membrane proteins have recently been styrene-maleic acid (SMA) amphipathic copolymers. These cut the membrane into nanodiscs (often called SMA-lipid particles, SMALPs), which contain membrane proteins surrounded by their relatively native lipid environment. In our recent study [1] we demonstrated that using this approach, most T cell membrane proteins were fully solubilized (presumably in small nanodiscs), while two types of raft proteins, GPI-anchored proteins and Src family kinases, were mostly present in much larger (>250 nm) membrane fragments markedly enriched in typical raft lipids, cholesterol and lipids containing saturated fatty acid residues. In the present study we demonstrate that disintegration of membranes of several other cell types by means of SMA copolymer follows a similar pattern and we provide a detailed proteomic and lipidomic characterization of these SMA-resistant membrane fragments (SRMs).

2023-07-26 | PXD031828 | Pride

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data