Associated Papers
Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.
D TK et al.
Journal of Biomolecular Structure & Dynamics, 2021
Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan.
Yoshimura A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
Hossain MA et al.
Gene, 2014
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