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ProteomicsCerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy
Promising results from recent clinical trials on the approved antisense oligonucleotide nusinersen in pediatric patients with 5q-linked spinal muscular atrophy (SMA) still have to be confirmed in adult patients but are hindered by a lack of sensitive biomarkers that indicate an early therapeutic res...
ORGANISM(S): Homo sapiens (Human) 
2020-01-07 | PXD016757 | Pride
Mass spectrometry (ms) Proteomics Antisense oligonucleotide (aso) Nusinersen Spinal muscular atrophy (sma) Cerebrospinal fluid (csf) 
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 
GenomicsPreliminary insights into RNA in CSF of SMA patients after Nusinersen “loading dose”
Preliminary insights into RNA in CSF of SMA patients after Nusinersen “loading dose”
PRJNA916710 | ENA
ProteomicsNeuronal Pentraxin 2 as a Potential Biomarker for Nusinersen Therapy Response in Adults with Spinal Muscular Atrophy: A Pilot Study
This project investigates cerebrospinal fluid (CSF) proteome changes in adults with spinal muscular atrophy (pwSMA) treated with the antisense oligonucleotide nusinersen. A label-free quantitative proteomic analysis was conducted on CSF samples from a subset of pwSMA (n=7) classified as clinical res...
ORGANISM(S): Homo sapiens (Human) 
2025-08-25 | PXD065345 | Pride
Spinal muscular atrophy  biomarker  nptx2  nusinersen 
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
TranscriptomicsPreliminary insights into RNA in CSF of SMA patients after Nusinersen “loading dose”
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 a...
ORGANISM(S): Homo sapiens 
2023-07-03 | GSE221900 | GEO
GenomicsType I PRMT inhibitor MS023 promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue the phenotype of SMA mice
Type I PRMT inhibitor MS023 promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue the phenotype of SMA mice
PRJNA850432 | ENA
ProteomicsMultiomics profiling in Spinal Muscular Atrophy (SMA): Insights from longitudinal CSF analysis of patients under treatment with Nusinersen
Spinal Muscular Atrophy (SMA) is a rare neuromuscular disease caused by biallelic mutations in the SMN1 gene, leading to progressive muscle weakness due to degeneration of the anterior horn cells. Since 2017, SMA patients can be treated with the anti-sense oligonucleotide Nusinersen, which promotes ...
ORGANISM(S): Homo sapiens (Human) 
2025-04-01 | PXD060060 | Pride
Proteomics Nusinersen Sma Multi-omics 
UnknownScientific rationale for a higher dose of nusinersen.
Not available
S-EPMC9186144 | biostudies-literature
TranscriptomicsType I PRMT inhibitor MS023 promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue the phenotype of SMA mice
In our study we have identified MS023, an inhibitor of PRMTs, to increase SMN protein and FL SMN2 transcript levels, and to improve survival and weights of treated SMA mice, alone and in combination with currently approved antisense oligonucleotide. In order to understand the molecular underpinnings...
ORGANISM(S): Mus musculus 
2023-03-01 | GSE206400 | GEO
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