Article
Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.
Experimental neurology - 1 Jan 2025
Ricardez Hernandez Sara M, Ahmed Bassil, Al Rawi Yaser, Torres F Javier Llorente, Garro Kacher Mona O, Smith Catherine L, Al Rawi Zayd, Garcia Jessica, Nichols Nicole L, Lorson Christian L, Lorson Monique A
Abstract excerpt
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...
Topics
- Animals
- Mice
- Charcot-Marie-Tooth Disease
- DNA-Binding Proteins
- Transcription Factors
- Mutation
- Muscular Atrophy, Spinal
- Disease Models, Animal
- Mice, Transgenic
- Humans