Article

The <i>Ighmbp2</i> -R604X mouse recapitulates the severe SMARD1 clinical symptoms of aspiration, respiratory and feeding deficits

2025-08-31

Abstract excerpt

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot Marie Tooth type 2S (CMT2S) are due to mutations in immunoglobulin mu binding protein two ( IGHMBP2 ). We generated the Ighmbp2 -R604X mouse (R605X-humans) to understand how alterations in IGHMBP2 function impact disease pathology. The IGHMBP2-R605X mutation is associated with patients with SMARD1 or CMT2S. The impact of this mutation...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9c9cb392-c113-59a6-9946-cfd42f5f55b7
DOI: 10.1101/2025.08.27.672633

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The <i>Ighmbp2</i> -R604X mouse recapitulates the severe SMARD1 clinical symptoms of aspiration, respiratory and feeding deficitsDOI 10.1101/2025.08.27.672633Read

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.Semantic proximity Read

The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.Semantic proximity Read

Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.Semantic proximity Read

The FVB-nmd SMARD1 mouse presents with early respiratory deficits and pathology that significantly impact lifespan.Semantic proximity Read

Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1.Semantic proximity Read

Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).Semantic proximity Read

Defining the optimal dose and therapeutic window in SMA with respiratory distress type I model mice, FVB/NJ-Ighmpb2Semantic proximity Read

Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.Semantic proximity Read

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1Semantic proximity Read

Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.Semantic proximity Read

Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent.Semantic proximity Read

The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.Semantic proximity Read