SMN protein is required throughout life to prevent spinal muscular atrophy disease progression

Zhao, X; Feng, ZH; Risher, N; Mollin, A; Sheedy, J; Ling, KKY; Narasimhan, J; Dakka, A; Baird, JD; Ratni, H; Lutz, C; Chen, KS; Naryshkin, NA; Ko, CP; Welch, E; Metzger, F; Weetall, M

Weetall, M (通讯作者)，PTC Therapeut Inc, Pharmacol & Biomarkers, South Plainfield, NJ 07080 USA.

HUMAN MOLECULAR GENETICS, 2022; 31 (1): 82

Abstract

Spinal muscular atrophy (SMA) is caused by the loss of the survival motor neuron 1 (SMN1) gene function. The related SMN2 gene partially compensates b......

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