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TranscriptomicsDNA damage signaling gene array on SMA mouse skeletal muscle
A commercially available gene array (SABiosciences array PAMM-029ZD-12) was used to assay gene expression in skeletal muscle of SMA mice and control littermates. The Taiwanese severe SMA mouse model was used (Hsieh-Li et al. 2000). The array included 84 genes associated with DNA damage detection, DN...
ORGANISM(S): Mus musculus 
2014-03-03 | E-GEOD-55481 | biostudies-arrayexpress
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
TranscriptomicsTranscription profiling of muscular and neuronal mouse mutant: spinal muscular atrophy(SMA)
Study of gene expression profiles of muscular and neuronal mouse mutant of spinal muscular atrophy(SMA). Pre and post symptomatic stage disease have been analyzed.
ORGANISM(S): Mus musculus 
2005-05-20 | E-MEXP-131 | biostudies-arrayexpress
TranscriptomicsRNA-seq transcriptome profiling of motor neurons (MNs) and surrounding white matter glia (WM) microdissected from pre-symptomatic mouse model of spinal muscular atrophy (SMA)
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
ORGANISM(S): Mus musculus 
2013-11-05 | E-GEOD-51735 | biostudies-arrayexpress
TranscriptomicsRNA-seq of spinal cord, brain, liver, and muscle from an SMA mouse model
This study describes RNA-seq results from total spinal cord, brain, liver and muscle samples taken at PND1 and PND5 from an SMA mouse model paired with samples taken from heterozygous litter-mates. There are four mouse in each group.
ORGANISM(S): Mus musculus 
2016-08-25 | E-MTAB-3664 | biostudies-arrayexpress
ProteomicsLongitudinal Proteomic Fingerprinting in CSF of Nusinersen-Treated Patients with 5q-Associated Spinal Muscular Atrophy
Abstract Introduction: 5q-associated spinal muscular atrophy (SMA) is a motor neuron disease causing progressive alpha motor neuron degeneration, muscle atrophy, and weakness. Intrathecal therapy with the antisense oligonucleotide Nusinersen modifies the disease course. However, biomarkers for under...
ORGANISM(S): Homo sapiens (Human) 
2025-05-07 | PXD054900 | Pride
Cerebrospinal fluid Tmt Nusinersen Spinal muscle atrophy Sma Csf 
TranscriptomicsSelective Death in Spinal Muscular Atrophy: Genome-Wide RNA-Seq Using Purified Patient-Derived Motor Neurons
Spinal Muscular Atrophy (SMA) is well-known to be caused by mutations in the gene Survival of Motor Neuron 1 (SMN1). Because this gene is ubiquitously expressed, it remains poorly understood why motor neurons (MNs) are one of the most affected cell types. To begin to address this question, we carrie...
ORGANISM(S): Homo sapiens 
2015-09-01 | E-GEOD-69175 | biostudies-arrayexpress
ProteomicsMitochondrial defects contribute to impaired translational in SMA motor neurons
Spinal muscular atrophy (SMA) is a neuromuscular disease, characterized by loss of lower alpha motoneurons, which leads to proximal muscle weakness. SMA is caused by reduced levels of Survival of Motor Neuron protein due to biallelic deletions or mutations in the SMN1 gene. Dysfunctional mitochondri...
ORGANISM(S): Mus musculus (Mouse) 
2020-12-23 | PXD020403 | Pride
Initiation of mrna translation Reactive oxygen species Mitochondria Smn Spinal muscular atrophy 
TranscriptomicsRNAseq functional analysis of SMA model in C. elegans at the L4 stage
This dataset comprises RNA sequencing and downstream functional analyses of Caenorhabditis elegans models of spinal muscular atrophy (SMA). Samples were collected at the early L4 larval stage from wildtype and smn-1 mutant strains to assess gene expression changes associated with SMA phenotype onset...
ORGANISM(S): Caenorhabditis elegans 
2025-11-14 | E-MTAB-16084 | biostudies-arrayexpress
UnknownSMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.
Not available
S-EPMC3888833 | biostudies-literature
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