ArticleBrain : a journal of neurology2025
The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy.
Article in Brain : a journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed.
- Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment.RNA biology · 2026Review
- Gene Targeted Therapies for Neurodegenerative Disorders: Strategies and Implications in ALS and SMA.Genes · 2026Review
- Longitudinal multi-omics profiling of spinal muscular atrophy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Therapeutic advances in spinal muscular atrophy: a review of clinical, safety, and economic considerations.Frontiers in pharmacology · 2026Review
- Different factors underlie mild and severe forms of spinal muscular atrophy.Brain : a journal of neurology · 2025Article
- Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy UsingInternational journal of molecular sciences · 2024Article
- Coeliac disease as a model for understanding multiple sclerosis.Nature reviews. Neurology · 2024Review
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25 authors.
Funding
Abstract
Monogenic diseases are well-suited paradigms for the causal analysis of disease-driving molecular patterns. Spinal muscular atrophy (SMA) is one such monogenic model, caused by mutation or deletion of the survival of motor neuron 1 (SMN1) gene. Although several functions of the SMN protein have been studied, single functions and pathways alone do not allow the identification of crucial disease-driving molecules. Here, we analysed the systemic characteristics of SMA, using proteomics, phosphoproteomics, translatomics and interactomics, from two mouse models with different disease severities and genetics. This systems approach revealed subnetworks and proteins characterizing commonalities and differences of both models. To link the identified molecular networks with the disease-causing SMN protein, we combined SMN-interactome data with both proteomes, creating a comprehensive representation of SMA. By this approach, disease hubs and bottlenecks between SMN and downstream pathways could be identified. Linking a disease-causing molecule with widespread molecular dysregulations via multiomics is a concept for analyses of monogenic diseases.
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Registered trials
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