Damien Meng-Kiat Leow, Yang Kai Ng, Loo Chien Wang, Hiromi Wl Koh, Tianyun Zhao, Zi Jian Khong, Tommaso Tabaglio, Gunaseelan Narayanan, Richard M Giadone, Radoslaw M Sobota, Shi-Yan Ng, Adrian Kk Teo, Simon H Parson, Lee L Rubin, Wei-Yi Ong, Basil T Darras, Crystal Jj Yeo
Spinal Muscular Atrophy (SMA) is typically characterized as a motor neuron disease, but extra-neuronal phenotypes are present in almost every organ in severely affected patients and animal models. Extra-neuronal phenotypes were previously underappreciated as patients with severe SMA phenotypes usually died in infancy; however, with current treatments for motor neurons increasing patient lifespan, impaired function of peripheral organs may develop into significant future comorbidities and lead to new treatment-modified phenotypes...
May 9, 2024: Journal of Clinical Investigation