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MetabolomicsLarge neutral amino acid levels tune perinatal neuronal excitability and survival
Surprisingly little is known about the critical metabolic changes that neural cells have to undergo during development and how even mild, temporary shifts in this program can influence brain circuitries and behavior. Inspired by the discovery that mutations in SLC7A5, a transporter of metabolically-...
2023-03-28 | MTBLS6578 | MetaboLights
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
TranscriptomicsAge-associated bidirectional modulation of gene expression in single identified R15 neuron of Aplysia
Despite the advances in our understanding of aging-associated behavioral decline, we know relatively little about how aging affect neural circuits that underlie specific behaviors. Specifically, we know little about how aging affect expression of genes in specific neural circuits. We have now addres...
ORGANISM(S): Aplysia californica 
2014-02-05 | E-GEOD-46618 | 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
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
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
GenomicsEngrailed transcription factors direct embryonic medial excitatory cerebellar nuclei neuron identity and survival
Engrailed transcription factors direct embryonic medial excitatory cerebellar nuclei neuron identity and survival
PRJNA1035068 | ENA
GenomicsTNF-NFkB-p53 axis restricts in vivo survival of hPSC-derived dopamine neuron (RNA-Seq)
TNF-NFkB-p53 axis restricts in vivo survival of hPSC-derived dopamine neuron (RNA-Seq)
PRJNA893220 | ENA
GenomicsTNF-NFkB-p53 axis restricts in vivo survival of hPSC-derived dopamine neuron (scRNA-Seq)
TNF-NFkB-p53 axis restricts in vivo survival of hPSC-derived dopamine neuron (scRNA-Seq)
PRJNA893221 | ENA
GenomicsTNF-NFkB-p53 axis restricts in vivo survival of hPSC-derived dopamine neuron (CRISPR screen)
TNF-NFkB-p53 axis restricts in vivo survival of hPSC-derived dopamine neuron (CRISPR screen)
PRJNA896993 | ENA
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