运动神经元
神经科学
神经科学家
生物
神经元
细胞生物学
运动区
脊髓
心理学
调解人
中枢神经系统
少突胶质细胞
髓鞘
作者
Joseph R. Klim,Luis A. Williams,Francesco Limone,Irune Guerra San Juan,Brandi N. Davis‐Dusenbery,Daniel A. Mordes,Aaron Burberry,Michael J. Steinbaugh,Kanchana K. Gamage,Rory Kirchner,Rob Moccia,Seth H. Cassel,Kuchuan Chen,Brian J. Wainger,Clifford J. Woolf,Kevin Eggan
标识
DOI:10.1038/s41593-018-0300-4
摘要
The findings that amyotrophic lateral sclerosis (ALS) patients almost universally display pathological mislocalization of the RNA-binding protein TDP-43 and that mutations in its gene cause familial ALS have nominated altered RNA metabolism as a disease mechanism. However, the RNAs regulated by TDP-43 in motor neurons and their connection to neuropathy remain to be identified. Here we report transcripts whose abundances in human motor neurons are sensitive to TDP-43 depletion. Notably, expression of STMN2, which encodes a microtubule regulator, declined after TDP-43 knockdown and TDP-43 mislocalization as well as in patient-specific motor neurons and postmortem patient spinal cord. STMN2 loss upon reduced TDP-43 function was due to altered splicing, which is functionally important, as we show STMN2 is necessary for normal axonal outgrowth and regeneration. Notably, post-translational stabilization of STMN2 rescued neurite outgrowth and axon regeneration deficits induced by TDP-43 depletion. We propose that restoring STMN2 expression warrants examination as a therapeutic strategy for ALS.
科研通智能强力驱动
Strongly Powered by AbleSci AI