神经退行性变
核糖核酸
肌萎缩侧索硬化
生物
蛋白质聚集
伴侣(临床)
计算生物学
细胞生物学
神经科学
疾病
遗传学
医学
基因
病理
作者
Katie E. Copley,Jocelyn C. Mauna,Helen L. Danielson,Marilyn Ngo,Longxin Xie,Ashleigh Smirnov,Matthew H. Davis,Leland Mayne,Miriam Linsenmeier,Jack D. Rubien,Bede Portz,Bo Lim Lee,Hana M. Odeh,Martina Hallegger,Jernej Ule,Piera Pasinelli,Yan Poon,Nicolas L. Fawzi,Ben E. Black,Christopher J. Donnelly
标识
DOI:10.1101/2024.12.14.628507
摘要
Aberrant aggregation of the prion-like RNA binding protein TDP-43 drives several fatal neurodegenerative proteinopathies, including amyotrophic lateral sclerosis (ALS). In this work, we define how short, specific RNAs solubilize TDP-43. These short RNAs engage and stabilize the TDP-43 RNA recognition motifs, which allosterically destabilizes a conserved helical region in the prion-like domain, thereby promoting aggregation-resistant conformers. Sequence-space mining identified short RNA chaperones with enhanced activity against TDP-43 and disease-linked variants. Enhanced short RNA chaperones mitigated aberrant TDP-43 phenotypes in optogenetic models and in ALS patient-derived and control motor neurons. In mice with cytoplasmic TDP-43 aggregation and motor neuron loss, an enhanced short RNA chaperone reduced pathological aggregation, restored TDP-43 function, and conferred neuroprotection. These results define a mechanistic and therapeutic framework for RNA-based strategies to counter TDP-43 proteinopathies.
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