Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy

• Published in: Human molecular genetics Vol. 28; no. 21; pp. 3515 - 3527
• Main Authors: Šoltić, Darija, Shorrock, Hannah K, Allardyce, Hazel, Wilson, Emma L, Holt, Ian, Synowsky, Silvia A, Shirran, Sally L, Parson, Simon H, Gillingwater, Thomas H, Fuller, Heidi R
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.11.2019
• Subjects: Animals; Disease Models, Animal; Humans; Lamin Type A - genetics; Lamin Type A - metabolism; Male; Mice; Mice, Transgenic; Muscular Atrophy, Spinal - genetics; Muscular Atrophy, Spinal - metabolism; Muscular Atrophy, Spinal - pathology; Myocardium - metabolism; Myocardium - pathology

Cardiac pathology is emerging as a prominent systemic feature of spinal muscular atrophy (SMA), but little is known about the underlying molecular pathways. Using quantitative proteomics analysis, we demonstrate widespread molecular defects in heart tissue from the Taiwanese mouse model of severe SM...