Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia
Author:
Jung Hwa Lim,Hyun Mi Kang,Hong-Ryul Jung,Dae-Soo Kim,Kyung Hee Noh,Tae Kyung Chang,Byoung Joon Kim,Duk Hyun Sung,Hyun-Soo Cho,Kyung-Sook Chung,Nam-Soon Kim,Cho-Rok Jung
Publication:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease