ArticleHuman molecular genetics2004
Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy.
Article in Human molecular genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 67 citations in OpenAlex.
- AAV9 gene therapy optimization for SMARD1/CMT2S: safety and long-term efficacy comparison of two vectors in a SMARD1 preclinical model.Journal of biomedical science · 2026Article
- 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
- Activators of the 26S proteasome when protein degradation increases.Experimental & molecular medicine · 2025Review
- Review
- Disease Mechanisms and Therapeutic Approaches in SMARD1-Insights from Animal Models and Cell Models.Biomedicines · 2024Review
- Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.Human molecular genetics · 2023Article
- The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.Human molecular genetics · 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
- Muscle fiber-type selective propensity to pathology in the nmd mouse model of SMARD1.Biochemical and biophysical research communications · 2019Article
- Enterovirus 71 targets the cardiopulmonary system in a robust oral infection mouse model.Scientific reports · 2019Article
- Model validity for preclinical studies in precision medicine: precisely how precise do we need to be?Mammalian genome : official journal of the International Mammalian Genome Society · 2019Article
- A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1.Molecular therapy. Methods & clinical development · 2018Article
- Selective vulnerability in neuronal populations in nmd/SMARD1 mice.Human molecular genetics · 2018Article
- Hip region muscular dystrophy and emergence of motor deficits in dysferlin-deficient Bla/J mice.Physiological reports · 2017Article
- Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent.Molecular therapy : the journal of the American Society of Gene Therapy · 2016Article
- Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.Journal of cellular and molecular medicine · 2015Review
- Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model.Science advances · 2015Article
- Loss of Clcc1 results in ER stress, misfolded protein accumulation, and neurodegeneration.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- In vivo characterization of the role of tissue-specific translation elongation factor 1A2 in protein synthesis reveals insights into muscle atrophy.The FEBS journal · 2013Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Immunoglobulin mu binding protein 2 (IGHMBP2) is a DNA/RNA helicase with a putative role in transcriptional regulation and splicing. A recessive mutation of the Ighmbp2 gene in neuromuscular degeneration (nmd) mice causes progressive neurogenic atrophy of limb muscles. Affected mice show significant loss of motor neurons with large caliber axons and a moderate reduction of neurons with small caliber axons in the ventral nerve roots of the spinal cord. To investigate the role of Ighmbp2 in the pathogenesis of neuromuscular degeneration, we generated two independent lines of transgenic mice expressing the full-length Ighmbp2 cDNA specifically in neurons. Histopathological evaluation of L4 ventral nerve roots revealed that transgenic expression of the Ighmbp2 cDNA prevented primary motor neuron degeneration, while restoring the normal axonal morphology and density in nmd mice. A similar neuronal improvement is found in mutant mice carrying the CAST/EiJ-derived modifier of nmd (Mnm(C)). Intriguingly, both the transgenic and modified nmd mice went on to develop a previously unobserved cardiac and skeletal myopathy. Necropsy of nmd mice in end-stage heart failure revealed a primary dilated cardiomyopathy with secondary respiratory failure that was confirmed by in vivo ECG and echocardiographic measures. Our results suggest that reduced levels of IGHMBP2 in nmd mice compromise the integrity and function not only of motor neurons but also of skeletal and cardiac myocytes. These findings highlight the important role of IGHMBP2 in the maintenance and survival of these terminally differentiated cell types.
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