ArticleJournal of molecular medicine (Berlin, Germany)2009
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
Article in Journal of molecular medicine (Berlin, Germany), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05152823 (Phase I/IIa Intrathecal Gene Delivery Clinical Trial for IGHMBP2-Related Diseases), which is not on this map. Cited by 25 papers.
What it found
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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.
The trial behind it
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.
Phase I/IIa Intrathecal Gene Delivery Clinical Trial for IGHMBP2-Related Diseases
Who cites it
25 citing papers in PubMed, 58 citations in OpenAlex.
- A class of deep intronicmedRxiv : the preprint server for health sciences · 2026Article
- Neuroaxonal Degeneration as a Converging Mechanism in Motor Neuron Diseases (MNDs): Molecular Insights into RNA Dysregulation and Emerging Therapeutic Targets.International journal of molecular sciences · 2025Review
- Spatiotemporal deciphering of dynamic the FUS interactome during liquid-liquid phase separation in living cells.Nature communications · 2025Article
- Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.Experimental neurology · 2025Article
- Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1.Human molecular genetics · 2024Article
- IGHMBP2 deletion suppresses translation and activates the integrated stress response.Life science alliance · 2024Article
- Disease Mechanisms and Therapeutic Approaches in SMARD1-Insights from Animal Models and Cell Models.Biomedicines · 2024Review
- A novelFrontiers in pediatrics · 2024Article
- IGHMBP2 deletion suppresses translation and activates the integrated stress response.bioRxiv : the preprint server for biology · 2023Article
- Cellular functions of eukaryotic RNA helicases and their links to human diseases.Nature reviews. Molecular cell biology · 2023Review
- Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.Human molecular genetics · 2023Article
- Validation of the Pathogenic Effect ofInternational journal of molecular sciences · 2022Article
- Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).Cellular and molecular life sciences : CMLS · 2020Review
- Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.Brain research · 2020Review
- Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.Journal of cellular and molecular medicine · 2020Review
- Development of a novel severe mouse model of spinal muscular atrophy with respiratory distress type 1: FVB-nmd.Biochemical and biophysical research communications · 2019Article
- IGHMBP2 mutation associated with organ-specific autonomic dysfunction.Neuromuscular disorders : NMD · 2018Article
- Selective vulnerability in neuronal populations in nmd/SMARD1 mice.Human molecular genetics · 2018Article
- Diagnosis of muscle diseases presenting with early respiratory failure.Journal of neurology · 2015Review
- Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.American journal of human genetics · 2014Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
Abstract
Distal spinal muscular atrophy type 1 (DSMA1) is caused by mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene. Patients with DSMA1 present between 6 weeks and 6 months of age with progressive muscle weakness and respiratory failure due to diaphragmatic palsy. Contrary to this "classic" infantile disease, we have previously described a DSMA1 patient with juvenile disease onset. In this paper, we present (1) a second juvenile case and (2) the first study of DSMA1 on protein level in patients with infantile (n = 3) as well as juvenile (n = 2) disease onset observing elevated residual steady-state IGHMBP2 protein levels in the patients with late onset DSMA1 as compared to those with classic DSMA1. Mutation screening in IGHMBP2 revealed two patients compound heterozygous for a novel missense mutation (c.1478C-->T; p.T493I) and another previously described mutation. In lymphoblastoid cells of both patients, steady-state IGHMBP2 protein levels were reduced. In comparison to wild-type IGHMBP2, the p.T493I variant protein had an increased tendency to aggregate and spontaneously degrade in vitro. We verified a change in the physicochemical properties of the p.T493I variant which may explain the pathogenicity of this mutation. Our data further suggest that the age of onset of DSMA1 is variable, and we discuss the effect of residual IGHMBP2 protein levels on the clinical course and the severity of the disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.