Associated Papers
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.
Torres FJL et al.
Neurobiology of Disease, 2025
The Ighmbp2 -R604X mouse recapitulates the severe SMARD1 clinical symptoms of aspiration, respiratory and feeding deficits.
Torres FJL et al.
Biorxiv : the Preprint Server for Biology, 2025
Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.
Ricardez Hernandez SM et al.
Experimental Neurology, 2025
The molecular mechanisms that underlie IGHMBP2-related diseases.
Rzepnikowska W et al.
Neuropathology and Applied Neurobiology, 2024
Disease Mechanisms and Therapeutic Approaches in SMARD1-Insights from Animal Models and Cell Models.
Jablonka S et al.
Biomedicines, 2024
The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association.
Vadla GP et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.
Smith CE et al.
Human Molecular Genetics, 2022
[A case of Charcot-Marie-Tooth disease type 2S caused by mutation of IGHMBP2 gene].
Xiao MJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Perego MGL et al.
Cellular and Molecular Life Sciences : Cmls, 2020
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Gao C et al.
Frontiers in Genetics, 2019
One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.
Litvinenko I et al.
Journal of Child Neurology, 2014
The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.
Lim SC et al.
Nucleic Acids Research, 2012
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
Guenther UP et al.
Human Molecular Genetics, 2009
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
Maystadt I et al.
Human Mutation, 2004
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K et al.
Annals of Neurology, 2003