ArticleExperimental neurology2025
Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.
Article in Experimental neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- A class of deep intronicmedRxiv : the preprint server for health sciences · 2026Article
- SMΝΔ7 mice show breathing and airflow defects with significant pathology of respiratory and oral tract tissues.Frontiers in cellular neuroscience · 2026Article
- [Generation of induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with autosomal recessive CharcotZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025Article
- The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology.Neurobiology of disease · 2025Article
- 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
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Authors and funding
11 authors.
Funding
Abstract
Mutations in the Immunoglobulin mu DNA binding protein 2 (IGHMBP2) gene result in two distinct diseases, SMA with Respiratory Distress Type I (SMARD1) and Charcot Marie Tooth Type 2S (CMT2S). To understand the phenotypic and molecular differences between SMARD1 and CMT2S, and the role of IGHMBP2 in disease development, we generated mouse models based on six IGHMBP2 patient mutations. Previously, we reported the development and characterization of Ighmbp2
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Registered trials
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