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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
TranscriptomicsTranscription profiling of mouse spinal chord from a mouse model of severe spinal muscular atrophy
Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy
ORGANISM(S): Mus musculus 
2009-12-07 | E-MEXP-2428 | biostudies-arrayexpress
TranscriptomicsTranscriptomic profiling of spinal and bulbar muscular atrophy cultured embryonic motor neurons
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s Disease, is a slowly progressive adult-onset neuromuscular disease which results from a polyglutamine (polyQ) encoding CAG repeat expansion within the androgen receptor gene (AR). Despite the ubiquitous expression of the androgen rec...
ORGANISM(S): Mus musculus 
2019-05-02 | E-MTAB-6986 | 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
TranscriptomicsGlobal gene expression profile and splicing events of iPS-derived motorneurons from SMA patient, unaffected father and TGC-treated cells
Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease and is the second most common genetic disorder leading to death in childhood. Motoneurons derived from induced pluripotent stem cells (iPSC) obtained by reprogramming SMA patient and his healthy father fibroblasts, and gene...
ORGANISM(S): Homo sapiens 
2013-01-04 | E-GEOD-27205 | 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
ProteomicsPathologic alteration in the proteome of synaptosomes from the mouse model of spinal muscular atrophy
In this study, label-free quantitative proteomic analysis was performed using the Smn 2B/- mouse model to identify and investigate significant changes in protein abundance that may be related to the pathogenesis and neurodegeneration oberved in spinal muscular atrophy (SMA)
ORGANISM(S): Mus musculus (Mouse) 
2019-07-04 | PXD012850 | Pride
Synaptosomes Label-free Sma Ion-mobility Synapt 
TranscriptomicsMicroarray analysis of Gene expression in limb muscles of three mouse models of Kennedy disease/SBMA
Emerging evidence implicates transcriptional dyseregulation within skeletal muscle in the pathogenesis of Kennedy disease/spinal bulbar muscular atrophy (KD/SBMA). We therefore broadly characterized gene expression in skeletal muscle of three independently generated mouse models of this disorder. Th...
ORGANISM(S): Mus musculus 
2010-10-12 | E-GEOD-10190 | 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
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